dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs113488022
Current Build 157
Released September 3, 2024
- Organism
- Homo sapiens
- Position
-
chr7:140753336 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- A>C / A>G / A>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.0000014 (2/1400288, GnomAD_exomes)T=0.000016 (2/121220, ExAC)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- BRAF : Missense Variant
- Publications
- 72 citations
- Genomic View
- See rs on genome
Help
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| gnomAD v4 - Exomes | Global | Study-wide | 1400288 | A=0.9999986 | T=0.0000014 |
| gnomAD v4 - Exomes | European | Sub | 1164480 | A=0.9999991 | T=0.0000009 |
| gnomAD v4 - Exomes | South Asian | Sub | 86244 | A=0.99999 | T=0.00001 |
| gnomAD v4 - Exomes | American | Sub | 44684 | A=1.00000 | T=0.00000 |
| gnomAD v4 - Exomes | East Asian | Sub | 39610 | A=1.00000 | T=0.00000 |
| gnomAD v4 - Exomes | African | Sub | 33426 | A=1.00000 | T=0.00000 |
| gnomAD v4 - Exomes | Ashkenazi Jewish | Sub | 26098 | A=1.00000 | T=0.00000 |
| gnomAD v4 - Exomes | Middle Eastern | sub | 5746 | A=1.0000 | T=0.0000 |
| ExAC | Global | Study-wide | 121220 | A=0.999984 | T=0.000016 |
| ExAC | Europe | Sub | 73298 | A=1.00000 | T=0.00000 |
| ExAC | Asian | Sub | 25146 | A=0.99996 | T=0.00004 |
| ExAC | American | Sub | 11474 | A=0.99991 | T=0.00009 |
| ExAC | African | Sub | 10396 | A=1.00000 | T=0.00000 |
| ExAC | Other | Sub | 906 | A=1.000 | T=0.000 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 7 | NC_000007.14:g.140753336A>C |
| GRCh38.p14 chr 7 | NC_000007.14:g.140753336A>G |
| GRCh38.p14 chr 7 | NC_000007.14:g.140753336A>T |
| GRCh37.p13 chr 7 | NC_000007.13:g.140453136A>C |
| GRCh37.p13 chr 7 | NC_000007.13:g.140453136A>G |
| GRCh37.p13 chr 7 | NC_000007.13:g.140453136A>T |
| BRAF RefSeqGene (LRG_299) | NG_007873.3:g.176429T>G |
| BRAF RefSeqGene (LRG_299) | NG_007873.3:g.176429T>C |
| BRAF RefSeqGene (LRG_299) | NG_007873.3:g.176429T>A |
Gene: BRAF, B-Raf proto-oncogene, serine/threonine kinase
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| BRAF transcript variant 1 | NM_004333.6:c.1799T>G | V [GTG] > G [GGG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 1 | NP_004324.2:p.Val600Gly | V (Val) > G (Gly) | Missense Variant |
| BRAF transcript variant 1 | NM_004333.6:c.1799T>C | V [GTG] > A [GCG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 1 | NP_004324.2:p.Val600Ala | V (Val) > A (Ala) | Missense Variant |
| BRAF transcript variant 1 | NM_004333.6:c.1799T>A | V [GTG] > E [GAG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 1 | NP_004324.2:p.Val600Glu | V (Val) > E (Glu) | Missense Variant |
| BRAF transcript variant 2 | NM_001354609.2:c.1799T>G | V [GTG] > G [GGG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 2 | NP_001341538.1:p.Val600Gly | V (Val) > G (Gly) | Missense Variant |
| BRAF transcript variant 2 | NM_001354609.2:c.1799T>C | V [GTG] > A [GCG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 2 | NP_001341538.1:p.Val600Ala | V (Val) > A (Ala) | Missense Variant |
| BRAF transcript variant 2 | NM_001354609.2:c.1799T>A | V [GTG] > E [GAG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 2 | NP_001341538.1:p.Val600Glu | V (Val) > E (Glu) | Missense Variant |
| BRAF transcript variant 4 | NM_001374244.1:c.1919T>G | V [GTG] > G [GGG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 3 | NP_001361173.1:p.Val640Gly | V (Val) > G (Gly) | Missense Variant |
| BRAF transcript variant 4 | NM_001374244.1:c.1919T>C | V [GTG] > A [GCG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 3 | NP_001361173.1:p.Val640Ala | V (Val) > A (Ala) | Missense Variant |
| BRAF transcript variant 4 | NM_001374244.1:c.1919T>A | V [GTG] > E [GAG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 3 | NP_001361173.1:p.Val640Glu | V (Val) > E (Glu) | Missense Variant |
| BRAF transcript variant 5 | NM_001374258.1:c.1919T>G | V [GTG] > G [GGG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 4 | NP_001361187.1:p.Val640Gly | V (Val) > G (Gly) | Missense Variant |
| BRAF transcript variant 5 | NM_001374258.1:c.1919T>C | V [GTG] > A [GCG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 4 | NP_001361187.1:p.Val640Ala | V (Val) > A (Ala) | Missense Variant |
| BRAF transcript variant 5 | NM_001374258.1:c.1919T>A | V [GTG] > E [GAG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 4 | NP_001361187.1:p.Val640Glu | V (Val) > E (Glu) | Missense Variant |
| BRAF transcript variant 11 | NM_001378472.1:c.1643T>G | V [GTG] > G [GGG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 10 | NP_001365401.1:p.Val548Gly | V (Val) > G (Gly) | Missense Variant |
| BRAF transcript variant 11 | NM_001378472.1:c.1643T>C | V [GTG] > A [GCG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 10 | NP_001365401.1:p.Val548Ala | V (Val) > A (Ala) | Missense Variant |
| BRAF transcript variant 11 | NM_001378472.1:c.1643T>A | V [GTG] > E [GAG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 10 | NP_001365401.1:p.Val548Glu | V (Val) > E (Glu) | Missense Variant |
| BRAF transcript variant 6 | NM_001378467.1:c.1808T>G | V [GTG] > G [GGG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 5 | NP_001365396.1:p.Val603Gly | V (Val) > G (Gly) | Missense Variant |
| BRAF transcript variant 6 | NM_001378467.1:c.1808T>C | V [GTG] > A [GCG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 5 | NP_001365396.1:p.Val603Ala | V (Val) > A (Ala) | Missense Variant |
| BRAF transcript variant 6 | NM_001378467.1:c.1808T>A | V [GTG] > E [GAG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 5 | NP_001365396.1:p.Val603Glu | V (Val) > E (Glu) | Missense Variant |
| BRAF transcript variant 8 | NM_001378469.1:c.1733T>G | V [GTG] > G [GGG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 7 | NP_001365398.1:p.Val578Gly | V (Val) > G (Gly) | Missense Variant |
| BRAF transcript variant 8 | NM_001378469.1:c.1733T>C | V [GTG] > A [GCG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 7 | NP_001365398.1:p.Val578Ala | V (Val) > A (Ala) | Missense Variant |
| BRAF transcript variant 8 | NM_001378469.1:c.1733T>A | V [GTG] > E [GAG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 7 | NP_001365398.1:p.Val578Glu | V (Val) > E (Glu) | Missense Variant |
| BRAF transcript variant 7 | NM_001378468.1:c.1799T>G | V [GTG] > G [GGG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 6 | NP_001365397.1:p.Val600Gly | V (Val) > G (Gly) | Missense Variant |
| BRAF transcript variant 7 | NM_001378468.1:c.1799T>C | V [GTG] > A [GCG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 6 | NP_001365397.1:p.Val600Ala | V (Val) > A (Ala) | Missense Variant |
| BRAF transcript variant 7 | NM_001378468.1:c.1799T>A | V [GTG] > E [GAG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 6 | NP_001365397.1:p.Val600Glu | V (Val) > E (Glu) | Missense Variant |
| BRAF transcript variant 9 | NM_001378470.1:c.1697T>G | V [GTG] > G [GGG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 8 | NP_001365399.1:p.Val566Gly | V (Val) > G (Gly) | Missense Variant |
| BRAF transcript variant 9 | NM_001378470.1:c.1697T>C | V [GTG] > A [GCG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 8 | NP_001365399.1:p.Val566Ala | V (Val) > A (Ala) | Missense Variant |
| BRAF transcript variant 9 | NM_001378470.1:c.1697T>A | V [GTG] > E [GAG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 8 | NP_001365399.1:p.Val566Glu | V (Val) > E (Glu) | Missense Variant |
| BRAF transcript variant 14 | NM_001378475.1:c.1535T>G | V [GTG] > G [GGG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 13 | NP_001365404.1:p.Val512Gly | V (Val) > G (Gly) | Missense Variant |
| BRAF transcript variant 14 | NM_001378475.1:c.1535T>C | V [GTG] > A [GCG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 13 | NP_001365404.1:p.Val512Ala | V (Val) > A (Ala) | Missense Variant |
| BRAF transcript variant 14 | NM_001378475.1:c.1535T>A | V [GTG] > E [GAG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 13 | NP_001365404.1:p.Val512Glu | V (Val) > E (Glu) | Missense Variant |
| BRAF transcript variant 10 | NM_001378471.1:c.1688T>G | V [GTG] > G [GGG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 9 | NP_001365400.1:p.Val563Gly | V (Val) > G (Gly) | Missense Variant |
| BRAF transcript variant 10 | NM_001378471.1:c.1688T>C | V [GTG] > A [GCG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 9 | NP_001365400.1:p.Val563Ala | V (Val) > A (Ala) | Missense Variant |
| BRAF transcript variant 10 | NM_001378471.1:c.1688T>A | V [GTG] > E [GAG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 9 | NP_001365400.1:p.Val563Glu | V (Val) > E (Glu) | Missense Variant |
| BRAF transcript variant 12 | NM_001378473.1:c.1643T>G | V [GTG] > G [GGG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 11 | NP_001365402.1:p.Val548Gly | V (Val) > G (Gly) | Missense Variant |
| BRAF transcript variant 12 | NM_001378473.1:c.1643T>C | V [GTG] > A [GCG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 11 | NP_001365402.1:p.Val548Ala | V (Val) > A (Ala) | Missense Variant |
| BRAF transcript variant 12 | NM_001378473.1:c.1643T>A | V [GTG] > E [GAG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 11 | NP_001365402.1:p.Val548Glu | V (Val) > E (Glu) | Missense Variant |
| BRAF transcript variant 13 | NM_001378474.1:c.1799T>G | V [GTG] > G [GGG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 12 | NP_001365403.1:p.Val600Gly | V (Val) > G (Gly) | Missense Variant |
| BRAF transcript variant 13 | NM_001378474.1:c.1799T>C | V [GTG] > A [GCG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 12 | NP_001365403.1:p.Val600Ala | V (Val) > A (Ala) | Missense Variant |
| BRAF transcript variant 13 | NM_001378474.1:c.1799T>A | V [GTG] > E [GAG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform 12 | NP_001365403.1:p.Val600Glu | V (Val) > E (Glu) | Missense Variant |
| BRAF transcript variant X4 |
XM_047420768.1:c.1815-391… XM_047420768.1:c.1815-3918T>G |
N/A | Intron Variant |
| BRAF transcript variant X5 |
XM_047420769.1:c.1695-391… XM_047420769.1:c.1695-3918T>G |
N/A | Intron Variant |
| BRAF transcript variant X1 | XM_017012559.2:c.1919T>G | V [GTG] > G [GGG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform X1 | XP_016868048.1:p.Val640Gly | V (Val) > G (Gly) | Missense Variant |
| BRAF transcript variant X1 | XM_017012559.2:c.1919T>C | V [GTG] > A [GCG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform X1 | XP_016868048.1:p.Val640Ala | V (Val) > A (Ala) | Missense Variant |
| BRAF transcript variant X1 | XM_017012559.2:c.1919T>A | V [GTG] > E [GAG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform X1 | XP_016868048.1:p.Val640Glu | V (Val) > E (Glu) | Missense Variant |
| BRAF transcript variant X2 | XM_047420766.1:c.1763T>G | V [GTG] > G [GGG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform X2 | XP_047276722.1:p.Val588Gly | V (Val) > G (Gly) | Missense Variant |
| BRAF transcript variant X2 | XM_047420766.1:c.1763T>C | V [GTG] > A [GCG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform X2 | XP_047276722.1:p.Val588Ala | V (Val) > A (Ala) | Missense Variant |
| BRAF transcript variant X2 | XM_047420766.1:c.1763T>A | V [GTG] > E [GAG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform X2 | XP_047276722.1:p.Val588Glu | V (Val) > E (Glu) | Missense Variant |
| BRAF transcript variant X3 | XM_047420767.1:c.1919T>G | V [GTG] > G [GGG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform X3 | XP_047276723.1:p.Val640Gly | V (Val) > G (Gly) | Missense Variant |
| BRAF transcript variant X3 | XM_047420767.1:c.1919T>C | V [GTG] > A [GCG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform X3 | XP_047276723.1:p.Val640Ala | V (Val) > A (Ala) | Missense Variant |
| BRAF transcript variant X3 | XM_047420767.1:c.1919T>A | V [GTG] > E [GAG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform X3 | XP_047276723.1:p.Val640Glu | V (Val) > E (Glu) | Missense Variant |
| BRAF transcript variant X6 | XM_047420770.1:c.1085T>G | V [GTG] > G [GGG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform X6 | XP_047276726.1:p.Val362Gly | V (Val) > G (Gly) | Missense Variant |
| BRAF transcript variant X6 | XM_047420770.1:c.1085T>C | V [GTG] > A [GCG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform X6 | XP_047276726.1:p.Val362Ala | V (Val) > A (Ala) | Missense Variant |
| BRAF transcript variant X6 | XM_047420770.1:c.1085T>A | V [GTG] > E [GAG] | Coding Sequence Variant |
| serine/threonine-protein kinase B-raf isoform X6 | XP_047276726.1:p.Val362Glu | V (Val) > E (Glu) | Missense Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Allele: C (allele ID:
48859
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000208774.10 | Cardio-facio-cutaneous syndrome | Not-Provided |
| RCV000433794.9 | Melanoma | Pathogenic |
| RCV000798913.13 | RASopathy | Pathogenic |
| RCV001354831.12 | not provided | Uncertain-Significance |
Allele: G (allele ID:
363167
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000445347.9 | Melanoma | Likely-Pathogenic |
Allele: T (allele ID:
29000
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000014992.24 | Carcinoma of colon | Pathogenic |
| RCV000014993.25 | Papillary thyroid carcinoma | Pathogenic |
| RCV000014994.24 | Astrocytoma, low-grade, somatic | Pathogenic |
| RCV000022677.24 | Nongerminomatous germ cell tumor | Pathogenic |
| RCV000037936.14 | Non-small cell lung carcinoma | Pathogenic |
| RCV000067669.29 | Melanoma | Pathogenic |
| RCV000080903.19 | not provided | Pathogenic |
| RCV000208763.11 | Cardio-facio-cutaneous syndrome | Not-Provided |
| RCV000417746.9 | Malignant melanoma of skin | Likely-Pathogenic |
| RCV000420614.9 | Colonic neoplasm | Likely-Pathogenic |
| RCV000424470.9 | Squamous cell carcinoma of the head and neck | Likely-Pathogenic |
| RCV000425166.9 | Brainstem glioma | Likely-Pathogenic |
| RCV000425847.9 | Glioblastoma | Likely-Pathogenic |
| RCV000429915.9 | Lung adenocarcinoma | Likely-Pathogenic |
| RCV000430562.10 | Multiple myeloma | Likely-Pathogenic |
| RCV000432628.9 | Ovarian neoplasm | Pathogenic |
| RCV000433305.9 | Lung carcinoma | Pathogenic |
| RCV000435441.9 | Neoplasm of brain | Likely-Pathogenic |
| RCV000440540.9 | Gastrointestinal stromal tumor | Pathogenic |
| RCV000440802.9 | Papillary renal cell carcinoma, sporadic | Likely-Pathogenic |
| RCV000443448.9 | Neoplasm | Likely-Pathogenic |
| RCV000443745.9 | Neoplasm of the large intestine | Pathogenic |
| RCV000662278.10 | Cystic epithelial invagination containing papillae lined by columnar epithelium | Pathogenic |
| RCV000860020.9 | Cerebral arteriovenous malformation | Pathogenic |
| RCV001248834.9 | Nephroblastoma | Pathogenic |
| RCV001254874.9 | Malignant neoplastic disease | Likely-Pathogenic |
| RCV002051586.10 | Lymphangioma | Pathogenic |
| RCV003458334.1 | Vascular malformation | Pathogenic |
| RCV004018627.1 | Cardiovascular phenotype | Likely-Pathogenic |
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | A= | C | G | T |
|---|---|---|---|---|
| GRCh38.p14 chr 7 | NC_000007.14:g.140753336= | NC_000007.14:g.140753336A>C | NC_000007.14:g.140753336A>G | NC_000007.14:g.140753336A>T |
| GRCh37.p13 chr 7 | NC_000007.13:g.140453136= | NC_000007.13:g.140453136A>C | NC_000007.13:g.140453136A>G | NC_000007.13:g.140453136A>T |
| BRAF RefSeqGene (LRG_299) | NG_007873.3:g.176429= | NG_007873.3:g.176429T>G | NG_007873.3:g.176429T>C | NG_007873.3:g.176429T>A |
| BRAF transcript variant 1 | NM_004333.6:c.1799= | NM_004333.6:c.1799T>G | NM_004333.6:c.1799T>C | NM_004333.6:c.1799T>A |
| BRAF transcript variant 1 | NM_004333.5:c.1799= | NM_004333.5:c.1799T>G | NM_004333.5:c.1799T>C | NM_004333.5:c.1799T>A |
| BRAF transcript | NM_004333.4:c.1799= | NM_004333.4:c.1799T>G | NM_004333.4:c.1799T>C | NM_004333.4:c.1799T>A |
| BRAF transcript variant 2 | NM_001354609.2:c.1799= | NM_001354609.2:c.1799T>G | NM_001354609.2:c.1799T>C | NM_001354609.2:c.1799T>A |
| BRAF transcript variant 2 | NM_001354609.1:c.1799= | NM_001354609.1:c.1799T>G | NM_001354609.1:c.1799T>C | NM_001354609.1:c.1799T>A |
| BRAF transcript variant 5 | NM_001374258.1:c.1919= | NM_001374258.1:c.1919T>G | NM_001374258.1:c.1919T>C | NM_001374258.1:c.1919T>A |
| BRAF transcript variant 6 | NM_001378467.1:c.1808= | NM_001378467.1:c.1808T>G | NM_001378467.1:c.1808T>C | NM_001378467.1:c.1808T>A |
| BRAF transcript variant 9 | NM_001378470.1:c.1697= | NM_001378470.1:c.1697T>G | NM_001378470.1:c.1697T>C | NM_001378470.1:c.1697T>A |
| BRAF transcript variant 10 | NM_001378471.1:c.1688= | NM_001378471.1:c.1688T>G | NM_001378471.1:c.1688T>C | NM_001378471.1:c.1688T>A |
| BRAF transcript variant 7 | NM_001378468.1:c.1799= | NM_001378468.1:c.1799T>G | NM_001378468.1:c.1799T>C | NM_001378468.1:c.1799T>A |
| BRAF transcript variant 14 | NM_001378475.1:c.1535= | NM_001378475.1:c.1535T>G | NM_001378475.1:c.1535T>C | NM_001378475.1:c.1535T>A |
| BRAF transcript variant 11 | NM_001378472.1:c.1643= | NM_001378472.1:c.1643T>G | NM_001378472.1:c.1643T>C | NM_001378472.1:c.1643T>A |
| BRAF transcript variant 4 | NM_001374244.1:c.1919= | NM_001374244.1:c.1919T>G | NM_001374244.1:c.1919T>C | NM_001374244.1:c.1919T>A |
| BRAF transcript variant 8 | NM_001378469.1:c.1733= | NM_001378469.1:c.1733T>G | NM_001378469.1:c.1733T>C | NM_001378469.1:c.1733T>A |
| BRAF transcript variant 12 | NM_001378473.1:c.1643= | NM_001378473.1:c.1643T>G | NM_001378473.1:c.1643T>C | NM_001378473.1:c.1643T>A |
| BRAF transcript variant X1 | XM_017012559.2:c.1919= | XM_017012559.2:c.1919T>G | XM_017012559.2:c.1919T>C | XM_017012559.2:c.1919T>A |
| BRAF transcript variant X2 | XM_017012559.1:c.1919= | XM_017012559.1:c.1919T>G | XM_017012559.1:c.1919T>C | XM_017012559.1:c.1919T>A |
| BRAF transcript variant 3 | NR_148928.2:n.2898= | NR_148928.2:n.2898T>G | NR_148928.2:n.2898T>C | NR_148928.2:n.2898T>A |
| BRAF transcript variant X2 | XM_047420766.1:c.1763= | XM_047420766.1:c.1763T>G | XM_047420766.1:c.1763T>C | XM_047420766.1:c.1763T>A |
| BRAF transcript variant X6 | XM_047420770.1:c.1085= | XM_047420770.1:c.1085T>G | XM_047420770.1:c.1085T>C | XM_047420770.1:c.1085T>A |
| BRAF transcript variant 3 | NR_148928.1:n.2897= | NR_148928.1:n.2897T>G | NR_148928.1:n.2897T>C | NR_148928.1:n.2897T>A |
| BRAF transcript variant 13 | NM_001378474.1:c.1799= | NM_001378474.1:c.1799T>G | NM_001378474.1:c.1799T>C | NM_001378474.1:c.1799T>A |
| BRAF transcript variant X3 | XM_047420767.1:c.1919= | XM_047420767.1:c.1919T>G | XM_047420767.1:c.1919T>C | XM_047420767.1:c.1919T>A |
| serine/threonine-protein kinase B-raf isoform 1 | NP_004324.2:p.Val600= | NP_004324.2:p.Val600Gly | NP_004324.2:p.Val600Ala | NP_004324.2:p.Val600Glu |
| serine/threonine-protein kinase B-raf isoform 2 | NP_001341538.1:p.Val600= | NP_001341538.1:p.Val600Gly | NP_001341538.1:p.Val600Ala | NP_001341538.1:p.Val600Glu |
| serine/threonine-protein kinase B-raf isoform 4 | NP_001361187.1:p.Val640= | NP_001361187.1:p.Val640Gly | NP_001361187.1:p.Val640Ala | NP_001361187.1:p.Val640Glu |
| serine/threonine-protein kinase B-raf isoform 5 | NP_001365396.1:p.Val603= | NP_001365396.1:p.Val603Gly | NP_001365396.1:p.Val603Ala | NP_001365396.1:p.Val603Glu |
| serine/threonine-protein kinase B-raf isoform 8 | NP_001365399.1:p.Val566= | NP_001365399.1:p.Val566Gly | NP_001365399.1:p.Val566Ala | NP_001365399.1:p.Val566Glu |
| serine/threonine-protein kinase B-raf isoform 9 | NP_001365400.1:p.Val563= | NP_001365400.1:p.Val563Gly | NP_001365400.1:p.Val563Ala | NP_001365400.1:p.Val563Glu |
| serine/threonine-protein kinase B-raf isoform 6 | NP_001365397.1:p.Val600= | NP_001365397.1:p.Val600Gly | NP_001365397.1:p.Val600Ala | NP_001365397.1:p.Val600Glu |
| serine/threonine-protein kinase B-raf isoform 13 | NP_001365404.1:p.Val512= | NP_001365404.1:p.Val512Gly | NP_001365404.1:p.Val512Ala | NP_001365404.1:p.Val512Glu |
| serine/threonine-protein kinase B-raf isoform 10 | NP_001365401.1:p.Val548= | NP_001365401.1:p.Val548Gly | NP_001365401.1:p.Val548Ala | NP_001365401.1:p.Val548Glu |
| serine/threonine-protein kinase B-raf isoform 3 | NP_001361173.1:p.Val640= | NP_001361173.1:p.Val640Gly | NP_001361173.1:p.Val640Ala | NP_001361173.1:p.Val640Glu |
| serine/threonine-protein kinase B-raf isoform 7 | NP_001365398.1:p.Val578= | NP_001365398.1:p.Val578Gly | NP_001365398.1:p.Val578Ala | NP_001365398.1:p.Val578Glu |
| serine/threonine-protein kinase B-raf isoform 11 | NP_001365402.1:p.Val548= | NP_001365402.1:p.Val548Gly | NP_001365402.1:p.Val548Ala | NP_001365402.1:p.Val548Glu |
| serine/threonine-protein kinase B-raf isoform X1 | XP_016868048.1:p.Val640= | XP_016868048.1:p.Val640Gly | XP_016868048.1:p.Val640Ala | XP_016868048.1:p.Val640Glu |
| serine/threonine-protein kinase B-raf isoform X2 | XP_047276722.1:p.Val588= | XP_047276722.1:p.Val588Gly | XP_047276722.1:p.Val588Ala | XP_047276722.1:p.Val588Glu |
| serine/threonine-protein kinase B-raf isoform X6 | XP_047276726.1:p.Val362= | XP_047276726.1:p.Val362Gly | XP_047276726.1:p.Val362Ala | XP_047276726.1:p.Val362Glu |
| serine/threonine-protein kinase B-raf isoform 12 | NP_001365403.1:p.Val600= | NP_001365403.1:p.Val600Gly | NP_001365403.1:p.Val600Ala | NP_001365403.1:p.Val600Glu |
| serine/threonine-protein kinase B-raf isoform X3 | XP_047276723.1:p.Val640= | XP_047276723.1:p.Val640Gly | XP_047276723.1:p.Val640Ala | XP_047276723.1:p.Val640Glu |
| BRAF transcript variant X4 | XM_047420768.1:c.1815-3918= | XM_047420768.1:c.1815-3918T>G | XM_047420768.1:c.1815-3918T>C | XM_047420768.1:c.1815-3918T>A |
| BRAF transcript variant X5 | XM_047420769.1:c.1695-3918= | XM_047420769.1:c.1695-3918T>G | XM_047420769.1:c.1695-3918T>C | XM_047420769.1:c.1695-3918T>A |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
45 SubSNP,
2 Frequency,
34 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | MPIMG-CANCERGENOMICS | ss218178475 | Jul 04, 2010 (132) |
| 2 | DF-BWCC | ss275515231 | Nov 22, 2010 (133) |
| 3 | DF-BWCC | ss275515233 | Nov 22, 2010 (133) |
| 4 | OMIM-CURATED-RECORDS | ss275518048 | Dec 03, 2010 (133) |
| 5 | YSAMUELS | ss344939594 | Aug 10, 2012 (137) |
| 6 | CLINVAR | ss831879180 | Nov 05, 2013 (136) |
| 7 | EVA_EXAC | ss1688979043 | Apr 01, 2015 (144) |
| 8 | YSAMUELS | ss1849950347 | Feb 12, 2016 (147) |
| 9 | YSAMUELS | ss1849950348 | Feb 12, 2016 (147) |
| 10 | YSAMUELS | ss1849950349 | Feb 12, 2016 (147) |
| 11 | YSAMUELS | ss1849950350 | Feb 12, 2016 (147) |
| 12 | YSAMUELS | ss1849950351 | Feb 12, 2016 (147) |
| 13 | YSAMUELS | ss1849950352 | Feb 12, 2016 (147) |
| 14 | YSAMUELS | ss1849950353 | Feb 12, 2016 (147) |
| 15 | YSAMUELS | ss1849950354 | Feb 12, 2016 (147) |
| 16 | YSAMUELS | ss1849950355 | Feb 12, 2016 (147) |
| 17 | YSAMUELS | ss1849950356 | Feb 12, 2016 (147) |
| 18 | YSAMUELS | ss1849950357 | Feb 12, 2016 (147) |
| 19 | YSAMUELS | ss1849950358 | Feb 12, 2016 (147) |
| 20 | YSAMUELS | ss1849950359 | Feb 12, 2016 (147) |
| 21 | YSAMUELS | ss1849950360 | Feb 12, 2016 (147) |
| 22 | YSAMUELS | ss1849950361 | Feb 12, 2016 (147) |
| 23 | YSAMUELS | ss1849950362 | Feb 12, 2016 (147) |
| 24 | YSAMUELS | ss1849950363 | Feb 12, 2016 (147) |
| 25 | YSAMUELS | ss1849950364 | Feb 12, 2016 (147) |
| 26 | YSAMUELS | ss1849950365 | Feb 12, 2016 (147) |
| 27 | YSAMUELS | ss1849950366 | Feb 12, 2016 (147) |
| 28 | YSAMUELS | ss1849950367 | Feb 12, 2016 (147) |
| 29 | YSAMUELS | ss1849950368 | Feb 12, 2016 (147) |
| 30 | YSAMUELS | ss1849950369 | Feb 12, 2016 (147) |
| 31 | YSAMUELS | ss1849950370 | Feb 12, 2016 (147) |
| 32 | YSAMUELS | ss1849950371 | Feb 12, 2016 (147) |
| 33 | YSAMUELS | ss1849950372 | Feb 12, 2016 (147) |
| 34 | YSAMUELS | ss1849950373 | Feb 12, 2016 (147) |
| 35 | GNOMAD | ss2736818121 | Nov 08, 2017 (151) |
| 36 | GNOMAD | ss6432767252 | Nov 03, 2024 (157) |
| 37 | CPQ_GEN_INCA | ss8236855179 | Nov 03, 2024 (157) |
| 38 | CSS-BFX | ss8442109030 | Nov 03, 2024 (157) |
| 39 | CSS-BFX | ss8442109031 | Nov 03, 2024 (157) |
| 40 | CSS-BFX | ss8442109032 | Nov 03, 2024 (157) |
| 41 | EVA | ss8512434766 | Nov 03, 2024 (157) |
| 42 | EVA | ss8935900606 | Nov 03, 2024 (157) |
| 43 | EVA | ss8981582665 | Nov 03, 2024 (157) |
| 44 | LTPD | ss8981620933 | Nov 03, 2024 (157) |
| 45 | EVA | ss8981979433 | Nov 03, 2024 (157) |
| 46 | ExAC | NC_000007.13 - 140453136 | Oct 12, 2018 (152) |
| 47 | gnomAD v4 - Exomes | NC_000007.14 - 140753336 | Nov 03, 2024 (157) |
| 48 | ClinVar | RCV000014992.24 | Nov 03, 2024 (157) |
| 49 | ClinVar | RCV000014993.25 | Nov 03, 2024 (157) |
| 50 | ClinVar | RCV000014994.24 | Nov 03, 2024 (157) |
| 51 | ClinVar | RCV000022677.24 | Nov 03, 2024 (157) |
| 52 | ClinVar | RCV000037936.14 | Nov 03, 2024 (157) |
| 53 | ClinVar | RCV000067669.29 | Nov 03, 2024 (157) |
| 54 | ClinVar | RCV000080903.19 | Nov 03, 2024 (157) |
| 55 | ClinVar | RCV000208763.11 | Nov 03, 2024 (157) |
| 56 | ClinVar | RCV000208774.10 | Nov 03, 2024 (157) |
| 57 | ClinVar | RCV000417746.9 | Nov 03, 2024 (157) |
| 58 | ClinVar | RCV000420614.9 | Nov 03, 2024 (157) |
| 59 | ClinVar | RCV000424470.9 | Nov 03, 2024 (157) |
| 60 | ClinVar | RCV000425166.9 | Nov 03, 2024 (157) |
| 61 | ClinVar | RCV000425847.9 | Nov 03, 2024 (157) |
| 62 | ClinVar | RCV000429915.9 | Nov 03, 2024 (157) |
| 63 | ClinVar | RCV000430562.10 | Nov 03, 2024 (157) |
| 64 | ClinVar | RCV000432628.9 | Nov 03, 2024 (157) |
| 65 | ClinVar | RCV000433305.9 | Nov 03, 2024 (157) |
| 66 | ClinVar | RCV000433794.9 | Nov 03, 2024 (157) |
| 67 | ClinVar | RCV000435441.9 | Nov 03, 2024 (157) |
| 68 | ClinVar | RCV000440540.9 | Nov 03, 2024 (157) |
| 69 | ClinVar | RCV000440802.9 | Nov 03, 2024 (157) |
| 70 | ClinVar | RCV000443448.9 | Nov 03, 2024 (157) |
| 71 | ClinVar | RCV000443745.9 | Nov 03, 2024 (157) |
| 72 | ClinVar | RCV000445347.9 | Nov 03, 2024 (157) |
| 73 | ClinVar | RCV000662278.10 | Nov 03, 2024 (157) |
| 74 | ClinVar | RCV000798913.13 | Nov 03, 2024 (157) |
| 75 | ClinVar | RCV000860020.9 | Nov 03, 2024 (157) |
| 76 | ClinVar | RCV001248834.9 | Nov 03, 2024 (157) |
| 77 | ClinVar | RCV001254874.9 | Nov 03, 2024 (157) |
| 78 | ClinVar | RCV001354831.12 | Nov 03, 2024 (157) |
| 79 | ClinVar | RCV002051586.10 | Nov 03, 2024 (157) |
| 80 | ClinVar | RCV003458334.1 | Nov 03, 2024 (157) |
| 81 | ClinVar | RCV004018627.1 | Nov 03, 2024 (157) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss8442109030 | NC_000007.13:140453135:A:C | NC_000007.14:140753335:A:C | (self) |
| RCV000208774.10, RCV000433794.9, RCV000798913.13, RCV001354831.12, ss831879180 | NC_000007.14:140753335:A:C | NC_000007.14:140753335:A:C | (self) |
| ss8442109031 | NC_000007.13:140453135:A:G | NC_000007.14:140753335:A:G | (self) |
| RCV000445347.9, ss275515231 | NC_000007.14:140753335:A:G | NC_000007.14:140753335:A:G | (self) |
| 9063858, ss1688979043, ss1849950347, ss1849950348, ss1849950349, ss1849950350, ss1849950351, ss1849950352, ss1849950353, ss1849950354, ss1849950355, ss1849950356, ss1849950357, ss1849950358, ss1849950359, ss1849950360, ss1849950361, ss1849950362, ss1849950363, ss1849950364, ss1849950365, ss1849950366, ss1849950367, ss1849950368, ss1849950369, ss1849950370, ss1849950371, ss1849950372, ss1849950373, ss2736818121, ss8236855179, ss8442109032, ss8512434766, ss8935900606, ss8981582665, ss8981620933, ss8981979433 | NC_000007.13:140453135:A:T | NC_000007.14:140753335:A:T | (self) |
| RCV000014992.24, RCV000014993.25, RCV000014994.24, RCV000022677.24, RCV000037936.14, RCV000067669.29, RCV000080903.19, RCV000208763.11, RCV000417746.9, RCV000420614.9, RCV000424470.9, RCV000425166.9, RCV000425847.9, RCV000429915.9, RCV000430562.10, RCV000432628.9, RCV000433305.9, RCV000435441.9, RCV000440540.9, RCV000440802.9, RCV000443448.9, RCV000443745.9, RCV000662278.10, RCV000860020.9, RCV001248834.9, RCV001254874.9, RCV002051586.10, RCV003458334.1, RCV004018627.1, 28082750, ss275515233, ss275518048, ss344939594, ss6432767252 | NC_000007.14:140753335:A:T | NC_000007.14:140753335:A:T | (self) |
| ss218178475 | NT_007914.15:1048758:A:T | NC_000007.14:140753335:A:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
72
citations for rs113488022
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 12068308 | Mutations of the BRAF gene in human cancer. | Davies H et al. | 2002 | Nature |
| 12460918 | BRAF and RAS mutations in human lung cancer and melanoma. | Brose MS et al. | 2002 | Cancer research |
| 12460919 | Missense mutations of the BRAF gene in human lung adenocarcinoma. | Naoki K et al. | 2002 | Cancer research |
| 12960123 | BRAF mutations in metastatic melanoma: a possible association with clinical outcome. | Kumar R et al. | 2003 | Clinical cancer research |
| 14679157 | Determinants of BRAF mutations in primary melanomas. | Maldonado JL et al. | 2003 | Journal of the National Cancer Institute |
| 15035987 | Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. | Wan PT et al. | 2004 | Cell |
| 19001320 | Wild-type BRAF is required for response to panitumumab or cetuximab in metastatic colorectal cancer. | Di Nicolantonio F et al. | 2008 | Journal of clinical oncology |
| 19010912 | Genetic predictors of MEK dependence in non-small cell lung cancer. | Pratilas CA et al. | 2008 | Cancer research |
| 19018267 | KRAS or BRAF mutation status is a useful predictor of sensitivity to MEK inhibition in ovarian cancer. | Nakayama N et al. | 2008 | British journal of cancer |
| 19238210 | Alterations in genes of the EGFR signaling pathway and their relationship to EGFR tyrosine kinase inhibitor sensitivity in lung cancer cell lines. | Gandhi J et al. | 2009 | PloS one |
| 19404918 | Mutational analysis of the BRAF gene in transitional cell carcinoma of the bladder. | Boulalas I et al. | 2009 | The International journal of biological markers |
| 19537845 | Clinical biomarkers in oncology: focus on colorectal cancer. | De Roock W et al. | 2009 | Molecular diagnosis & therapy |
| 19561230 | V600E BRAF mutations are alternative early molecular events in a subset of KIT/PDGFRA wild-type gastrointestinal stromal tumours. | Agaimy A et al. | 2009 | Journal of clinical pathology |
| 20350999 | Prognostic and predictive biomarkers in resected colon cancer: current status and future perspectives for integrating genomics into biomarker discovery. | Tejpar S et al. | 2010 | The oncologist |
| 20413299 | Markers for EGFR pathway activation as predictor of outcome in metastatic colorectal cancer patients treated with or without cetuximab. | Tol J et al. | 2010 | European journal of cancer (Oxford, England |
| 20619739 | Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis. | De Roock W et al. | 2010 | The Lancet. Oncology |
| 20630094 | Incidence of the V600K mutation among melanoma patients with BRAF mutations, and potential therapeutic response to the specific BRAF inhibitor PLX4032. | Rubinstein JC et al. | 2010 | Journal of translational medicine |
| 20735442 | Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome. | Champion KJ et al. | 2011 | Clinical genetics |
| 20818844 | Inhibition of mutated, activated BRAF in metastatic melanoma. | Flaherty KT et al. | 2010 | The New England journal of medicine |
| 21129611 | Prognostic vs predictive molecular biomarkers in colorectal cancer: is KRAS and BRAF wild type status required for anti-EGFR therapy? | Rizzo S et al. | 2010 | Cancer treatment reviews |
| 21156289 | Acquired resistance to BRAF inhibitors mediated by a RAF kinase switch in melanoma can be overcome by cotargeting MEK and IGF-1R/PI3K. | Villanueva J et al. | 2010 | Cancer cell |
| 21163703 | KRAS, BRAF, PIK3CA, and PTEN mutations: implications for targeted therapies in metastatic colorectal cancer. | De Roock W et al. | 2011 | The Lancet. Oncology |
| 21426297 | BRAF as a target for cancer therapy. | Dienstmann R et al. | 2011 | Anti-cancer agents in medicinal chemistry |
| 21483012 | Clinical characteristics of patients with lung adenocarcinomas harboring BRAF mutations. | Paik PK et al. | 2011 | Journal of clinical oncology |
| 21639808 | Improved survival with vemurafenib in melanoma with BRAF V600E mutation. | Chapman PB et al. | 2011 | The New England journal of medicine |
| 21683865 | Molecular pathogenesis and extraovarian origin of epithelial ovarian cancer--shifting the paradigm. | Kurman RJ et al. | 2011 | Human pathology |
| 21975775 | Epidermal growth factor receptor blockers for the treatment of ovarian cancer. | Haldar K et al. | 2011 | The Cochrane database of systematic reviews |
| 22038996 | Targeted therapy for BRAFV600E malignant astrocytoma. | Nicolaides TP et al. | 2011 | Clinical cancer research |
| 22048237 | Phase II, open-label, randomized trial of the MEK1/2 inhibitor selumetinib as monotherapy versus temozolomide in patients with advanced melanoma. | Kirkwood JM et al. | 2012 | Clinical cancer research |
| 22180495 | Antitumor activity of BRAF inhibitor vemurafenib in preclinical models of BRAF-mutant colorectal cancer. | Yang H et al. | 2012 | Cancer research |
| 22281684 | Unresponsiveness of colon cancer to BRAF(V600E) inhibition through feedback activation of EGFR. | Prahallad A et al. | 2012 | Nature |
| 22351686 | The HSP90 inhibitor XL888 overcomes BRAF inhibitor resistance mediated through diverse mechanisms. | Paraiso KH et al. | 2012 | Clinical cancer research |
| 22356324 | Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib. | Sosman JA et al. | 2012 | The New England journal of medicine |
| 22389471 | Combinations of BRAF, MEK, and PI3K/mTOR inhibitors overcome acquired resistance to the BRAF inhibitor GSK2118436 dabrafenib, mediated by NRAS or MEK mutations. | Greger JG et al. | 2012 | Molecular cancer therapeutics |
| 22448344 | EGFR-mediated re-activation of MAPK signaling contributes to insensitivity of BRAF mutant colorectal cancers to RAF inhibition with vemurafenib. | Corcoran RB et al. | 2012 | Cancer discovery |
| 22536370 | Routine multiplex mutational profiling of melanomas enables enrollment in genotype-driven therapeutic trials. | Lovly CM et al. | 2012 | PloS one |
| 22586120 | Cooperative interactions of BRAFV600E kinase and CDKN2A locus deficiency in pediatric malignant astrocytoma as a basis for rational therapy. | Huillard E et al. | 2012 | Proceedings of the National Academy of Sciences of the United States of America |
| 22608338 | Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial. | Falchook GS et al. | 2012 | Lancet (London, England) |
| 22649091 | Kinase-impaired BRAF mutations in lung cancer confer sensitivity to dasatinib. | Sen B et al. | 2012 | Science translational medicine |
| 22663011 | Improved survival with MEK inhibition in BRAF-mutated melanoma. | Flaherty KT et al. | 2012 | The New England journal of medicine |
| 22735384 | Dabrafenib in BRAF-mutated metastatic melanoma: a multicentre, open-label, phase 3 randomised controlled trial. | Hauschild A et al. | 2012 | Lancet (London, England) |
| 22743296 | A patient with BRAF V600E lung adenocarcinoma responding to vemurafenib. | Gautschi O et al. | 2012 | Journal of thoracic oncology |
| 22773810 | Lung cancers with acquired resistance to EGFR inhibitors occasionally harbor BRAF gene mutations but lack mutations in KRAS, NRAS, or MEK1. | Ohashi K et al. | 2012 | Proceedings of the National Academy of Sciences of the United States of America |
| 22805292 | Activity of the oral MEK inhibitor trametinib in patients with advanced melanoma: a phase 1 dose-escalation trial. | Falchook GS et al. | 2012 | The Lancet. Oncology |
| 22972589 | Clinical responses to selumetinib (AZD6244; ARRY-142886)-based combination therapy stratified by gene mutations in patients with metastatic melanoma. | Patel SP et al. | 2013 | Cancer |
| 22997239 | Dual suppression of the cyclin-dependent kinase inhibitors CDKN2C and CDKN1A in human melanoma. | Jalili A et al. | 2012 | Journal of the National Cancer Institute |
| 23020132 | Combined BRAF and MEK inhibition in melanoma with BRAF V600 mutations. | Flaherty KT et al. | 2012 | The New England journal of medicine |
| 23031422 | Overwhelming response to Dabrafenib in a patient with double BRAF mutation (V600E; V600M) metastatic malignant melanoma. | Ponti G et al. | 2012 | Journal of hematology & oncology |
| 23251002 | Resistance to BRAF inhibition in BRAF-mutant colon cancer can be overcome with PI3K inhibition or demethylating agents. | Mao M et al. | 2013 | Clinical cancer research |
| 23325582 | Massively parallel tumor multigene sequencing to evaluate response to panitumumab in a randomized phase III study of metastatic colorectal cancer. | Peeters M et al. | 2013 | Clinical cancer research |
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Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.