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.
rs121913237
Current Build 157
Released September 3, 2024
- Organism
- Homo sapiens
- Position
-
chr1:114716126 (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
- C>A / C>G / C>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.000013 (2/149246, GnomAD_genomes)T=0.000008 (1/121410, ExAC)T=0.00008 (3/35432, ALFA) (+ 1 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- NRAS : Missense Variant
- Publications
- 35 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 35432 | C=0.99992 | T=0.00008 | 0.999831 | 0.0 | 0.000169 | 0 |
| European | Sub | 26588 | C=0.99989 | T=0.00011 | 0.999774 | 0.0 | 0.000226 | 0 |
| African | Sub | 2918 | C=1.0000 | T=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African Others | Sub | 114 | C=1.000 | T=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 2804 | C=1.0000 | T=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Asian | Sub | 112 | C=1.000 | T=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 86 | C=1.00 | T=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 26 | C=1.00 | T=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 500 | C=1.000 | T=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 628 | C=1.000 | T=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 98 | C=1.00 | T=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 4588 | C=1.0000 | T=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
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 - Genomes | Global | Study-wide | 149246 | C=0.999987 | T=0.000013 |
| gnomAD v4 - Genomes | European | Sub | 78632 | C=0.99997 | T=0.00003 |
| gnomAD v4 - Genomes | African | Sub | 41540 | C=1.00000 | T=0.00000 |
| gnomAD v4 - Genomes | American | Sub | 15302 | C=1.00000 | T=0.00000 |
| gnomAD v4 - Genomes | East Asian | Sub | 5186 | C=1.0000 | T=0.0000 |
| gnomAD v4 - Genomes | South Asian | Sub | 4826 | C=1.0000 | T=0.0000 |
| gnomAD v4 - Genomes | Ashkenazi Jewish | Sub | 3468 | C=1.0000 | T=0.0000 |
| gnomAD v4 - Genomes | Middle Eastern | sub | 292 | C=1.000 | T=0.000 |
| ExAC | Global | Study-wide | 121410 | C=0.999992 | T=0.000008 |
| ExAC | Europe | Sub | 73352 | C=0.99999 | T=0.00001 |
| ExAC | Asian | Sub | 25166 | C=1.00000 | T=0.00000 |
| ExAC | American | Sub | 11578 | C=1.00000 | T=0.00000 |
| ExAC | African | Sub | 10406 | C=1.00000 | T=0.00000 |
| ExAC | Other | Sub | 908 | C=1.000 | T=0.000 |
| Allele Frequency Aggregator | Total | Global | 35432 | C=0.99992 | T=0.00008 |
| Allele Frequency Aggregator | European | Sub | 26588 | C=0.99989 | T=0.00011 |
| Allele Frequency Aggregator | Other | Sub | 4588 | C=1.0000 | T=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2918 | C=1.0000 | T=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 628 | C=1.000 | T=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 500 | C=1.000 | T=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 112 | C=1.000 | T=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | C=1.00 | T=0.00 |
| GO Exome Sequencing Project | Global | Study-wide | 13006 | C=0.99992 | T=0.00008 |
| GO Exome Sequencing Project | European American | Sub | 8600 | C=0.9999 | T=0.0001 |
| GO Exome Sequencing Project | African American | Sub | 4406 | C=1.0000 | T=0.0000 |
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.
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 1 | NC_000001.11:g.114716126C>A |
| GRCh38.p14 chr 1 | NC_000001.11:g.114716126C>G |
| GRCh38.p14 chr 1 | NC_000001.11:g.114716126C>T |
| GRCh37.p13 chr 1 | NC_000001.10:g.115258747C>A |
| GRCh37.p13 chr 1 | NC_000001.10:g.115258747C>G |
| GRCh37.p13 chr 1 | NC_000001.10:g.115258747C>T |
| NRAS RefSeqGene (LRG_92) | NG_007572.1:g.5769G>T |
| NRAS RefSeqGene (LRG_92) | NG_007572.1:g.5769G>C |
| NRAS RefSeqGene (LRG_92) | NG_007572.1:g.5769G>A |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| NRAS transcript | NM_002524.5:c.35G>T | G [GGT] > V [GTT] | Coding Sequence Variant |
| GTPase NRas | NP_002515.1:p.Gly12Val | G (Gly) > V (Val) | Missense Variant |
| NRAS transcript | NM_002524.5:c.35G>C | G [GGT] > A [GCT] | Coding Sequence Variant |
| GTPase NRas | NP_002515.1:p.Gly12Ala | G (Gly) > A (Ala) | Missense Variant |
| NRAS transcript | NM_002524.5:c.35G>A | G [GGT] > D [GAT] | Coding Sequence Variant |
| GTPase NRas | NP_002515.1:p.Gly12Asp | G (Gly) > D (Asp) | Missense Variant |
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.
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000037576.12 | Noonan syndrome | Pathogenic |
| RCV000158986.13 | not provided | Pathogenic |
| RCV000419124.8 | Melanoma | Pathogenic |
| RCV000421072.8 | Multiple myeloma | Likely-Pathogenic |
| RCV000423890.8 | Gastric adenocarcinoma | Likely-Pathogenic |
| RCV000429393.8 | Acute myeloid leukemia | Likely-Pathogenic |
| RCV000432178.8 | Myelodysplastic syndrome | Likely-Pathogenic |
| RCV000438750.8 | Malignant melanoma of skin | Likely-Pathogenic |
| RCV000438967.8 | Malignant neoplasm of body of uterus | Likely-Pathogenic |
| RCV000439421.8 | Neoplasm of the large intestine | Pathogenic |
| RCV001377735.13 | RASopathy | Likely-Pathogenic |
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000203450.2 | Myelodysplastic syndrome progressed to acute myeloid leukemia | Pathogenic |
| RCV000380895.2 | not provided | Pathogenic |
| RCV000418647.1 | Multiple myeloma | Likely-Pathogenic |
| RCV000425963.1 | Myelodysplastic syndrome | Likely-Pathogenic |
| RCV000426950.1 | Acute myeloid leukemia | Likely-Pathogenic |
| RCV000427550.1 | Non-small cell lung carcinoma | Pathogenic |
| RCV000433455.1 | Gastric adenocarcinoma | Likely-Pathogenic |
| RCV000434113.1 | Melanoma | Pathogenic |
| RCV000437165.1 | Malignant neoplasm of body of uterus | Likely-Pathogenic |
| RCV000444591.1 | Malignant melanoma of skin | Likely-Pathogenic |
| RCV000444670.1 | Neoplasm of the large intestine | Pathogenic |
| RCV001324275.8 | RASopathy | Likely-Pathogenic |
| RCV001813426.3 | Noonan syndrome and Noonan-related syndrome | Pathogenic |
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000032849.7 | Epidermal nevus | Pathogenic |
| RCV000144963.3 | Juvenile myelomonocytic leukemia | Pathogenic |
| RCV000158980.5 | not provided | Pathogenic-Likely-Pathogenic |
| RCV000417702.1 | Multiple myeloma | Likely-Pathogenic |
| RCV000417869.1 | Melanoma | Pathogenic |
| RCV000424239.1 | Myelodysplastic syndrome | Likely-Pathogenic |
| RCV000427949.1 | Neoplasm of the large intestine | Pathogenic |
| RCV000430706.1 | Malignant neoplasm of body of uterus | Likely-Pathogenic |
| RCV000434517.1 | Gastric adenocarcinoma | Likely-Pathogenic |
| RCV000436228.1 | Acute myeloid leukemia | Likely-Pathogenic |
| RCV000439064.1 | Non-small cell lung carcinoma | Pathogenic |
| RCV000440963.1 | Malignant melanoma of skin | Likely-Pathogenic |
| RCV001781333.3 | Noonan syndrome 6 | Pathogenic |
| RCV001813214.3 | Noonan syndrome and Noonan-related syndrome | Likely-Pathogenic |
| RCV001852659.5 | RASopathy | Pathogenic |
| RCV003221788.2 | Autoimmune lymphoproliferative syndrome type 4 | Pathogenic |
| RCV003415756.5 | NRAS-related disorder | Pathogenic |
| RCV004018703.1 | Cardiovascular phenotype | Pathogenic |
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 | C= | A | G | T |
|---|---|---|---|---|
| GRCh38.p14 chr 1 | NC_000001.11:g.114716126= | NC_000001.11:g.114716126C>A | NC_000001.11:g.114716126C>G | NC_000001.11:g.114716126C>T |
| GRCh37.p13 chr 1 | NC_000001.10:g.115258747= | NC_000001.10:g.115258747C>A | NC_000001.10:g.115258747C>G | NC_000001.10:g.115258747C>T |
| NRAS RefSeqGene (LRG_92) | NG_007572.1:g.5769= | NG_007572.1:g.5769G>T | NG_007572.1:g.5769G>C | NG_007572.1:g.5769G>A |
| NRAS transcript | NM_002524.5:c.35= | NM_002524.5:c.35G>T | NM_002524.5:c.35G>C | NM_002524.5:c.35G>A |
| NRAS transcript | NM_002524.4:c.35= | NM_002524.4:c.35G>T | NM_002524.4:c.35G>C | NM_002524.4:c.35G>A |
| GTPase NRas | NP_002515.1:p.Gly12= | NP_002515.1:p.Gly12Val | NP_002515.1:p.Gly12Ala | NP_002515.1:p.Gly12Asp |
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#.
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | DF-BWCC | ss275515057 | Nov 22, 2010 (133) |
| 2 | DF-BWCC | ss275515072 | Nov 22, 2010 (133) |
| 3 | DF-BWCC | ss275515076 | Nov 22, 2010 (133) |
| 4 | NHLBI-ESP | ss712334771 | Apr 25, 2013 (138) |
| 5 | EVA_EXAC | ss1685703232 | Apr 01, 2015 (144) |
| 6 | HUMAN_LONGEVITY | ss2165908682 | Dec 20, 2016 (150) |
| 7 | GNOMAD | ss2731737989 | Nov 08, 2017 (151) |
| 8 | EVA_DECODE | ss3687577231 | Jul 12, 2019 (153) |
| 9 | EVA | ss3823644661 | Apr 25, 2020 (154) |
| 10 | GNOMAD | ss6408181595 | Nov 02, 2024 (157) |
| 11 | GNOMAD | ss6408181596 | Nov 02, 2024 (157) |
| 12 | GNOMAD | ss6408181597 | Nov 02, 2024 (157) |
| 13 | GNOMAD | ss6498724127 | Nov 02, 2024 (157) |
| 14 | CSS-BFX | ss8442107659 | Nov 02, 2024 (157) |
| 15 | CSS-BFX | ss8442107660 | Nov 02, 2024 (157) |
| 16 | CSS-BFX | ss8442107661 | Nov 02, 2024 (157) |
| 17 | EVA | ss8847552186 | Nov 02, 2024 (157) |
| 18 | EVA | ss8935520791 | Nov 02, 2024 (157) |
| 19 | EVA | ss8935520792 | Nov 02, 2024 (157) |
| 20 | EVA | ss8979286867 | Nov 02, 2024 (157) |
| 21 | ExAC | NC_000001.10 - 115258747 | Oct 11, 2018 (152) |
| 22 |
gnomAD v4 - Exomes
Submission ignored due to conflicting rows: |
- | Nov 02, 2024 (157) |
| 23 |
gnomAD v4 - Exomes
Submission ignored due to conflicting rows: |
- | Nov 02, 2024 (157) |
| 24 |
gnomAD v4 - Exomes
Submission ignored due to conflicting rows: |
- | Nov 02, 2024 (157) |
| 25 | gnomAD v4 - Genomes | NC_000001.11 - 114716126 | Nov 02, 2024 (157) |
| 26 | GO Exome Sequencing Project | NC_000001.10 - 115258747 | Oct 11, 2018 (152) |
| 27 | ALFA | NC_000001.11 - 114716126 | Nov 02, 2024 (157) |
| 28 | ClinVar | RCV000032849.7 | Oct 11, 2018 (152) |
| 29 | ClinVar | RCV000037576.12 | Nov 02, 2024 (157) |
| 30 | ClinVar | RCV000144963.3 | Oct 11, 2018 (152) |
| 31 | ClinVar | RCV000158980.5 | Nov 02, 2024 (157) |
| 32 | ClinVar | RCV000158986.13 | Nov 02, 2024 (157) |
| 33 | ClinVar | RCV000203450.2 | Oct 12, 2022 (156) |
| 34 | ClinVar | RCV000380895.2 | Oct 11, 2018 (152) |
| 35 | ClinVar | RCV000417702.1 | Oct 11, 2018 (152) |
| 36 | ClinVar | RCV000417869.1 | Oct 11, 2018 (152) |
| 37 | ClinVar | RCV000418647.1 | Oct 11, 2018 (152) |
| 38 | ClinVar | RCV000419124.8 | Nov 02, 2024 (157) |
| 39 | ClinVar | RCV000421072.8 | Nov 02, 2024 (157) |
| 40 | ClinVar | RCV000423890.8 | Nov 02, 2024 (157) |
| 41 | ClinVar | RCV000424239.1 | Oct 11, 2018 (152) |
| 42 | ClinVar | RCV000425963.1 | Oct 11, 2018 (152) |
| 43 | ClinVar | RCV000426950.1 | Oct 11, 2018 (152) |
| 44 | ClinVar | RCV000427550.1 | Oct 11, 2018 (152) |
| 45 | ClinVar | RCV000427949.1 | Oct 11, 2018 (152) |
| 46 | ClinVar | RCV000429393.8 | Nov 02, 2024 (157) |
| 47 | ClinVar | RCV000430706.1 | Oct 11, 2018 (152) |
| 48 | ClinVar | RCV000432178.8 | Nov 02, 2024 (157) |
| 49 | ClinVar | RCV000433455.1 | Oct 11, 2018 (152) |
| 50 | ClinVar | RCV000434113.1 | Oct 11, 2018 (152) |
| 51 | ClinVar | RCV000434517.1 | Oct 11, 2018 (152) |
| 52 | ClinVar | RCV000436228.1 | Oct 11, 2018 (152) |
| 53 | ClinVar | RCV000437165.1 | Oct 11, 2018 (152) |
| 54 | ClinVar | RCV000438750.8 | Nov 02, 2024 (157) |
| 55 | ClinVar | RCV000438967.8 | Nov 02, 2024 (157) |
| 56 | ClinVar | RCV000439064.1 | Oct 11, 2018 (152) |
| 57 | ClinVar | RCV000439421.8 | Nov 02, 2024 (157) |
| 58 | ClinVar | RCV000440963.1 | Oct 11, 2018 (152) |
| 59 | ClinVar | RCV000444591.1 | Oct 11, 2018 (152) |
| 60 | ClinVar | RCV000444670.1 | Oct 11, 2018 (152) |
| 61 | ClinVar | RCV001324275.8 | Nov 02, 2024 (157) |
| 62 | ClinVar | RCV001377735.13 | Nov 02, 2024 (157) |
| 63 | ClinVar | RCV001781333.3 | Nov 02, 2024 (157) |
| 64 | ClinVar | RCV001813214.3 | Nov 02, 2024 (157) |
| 65 | ClinVar | RCV001813426.3 | Nov 02, 2024 (157) |
| 66 | ClinVar | RCV001852659.5 | Nov 02, 2024 (157) |
| 67 | ClinVar | RCV003221788.2 | Nov 02, 2024 (157) |
| 68 | ClinVar | RCV003415756.5 | Nov 02, 2024 (157) |
| 69 | ClinVar | RCV004018703.1 | Nov 02, 2024 (157) |
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).
| Associated ID | History Updated (Build) |
|---|---|
| rs121913249 | May 05, 2011 (133) |
| rs121913253 | May 05, 2011 (133) |
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss2731737989, ss8442107659, ss8847552186, ss8935520791 | NC_000001.10:115258746:C:A | NC_000001.11:114716125:C:A | (self) |
| RCV000037576.12, RCV000158986.13, RCV000419124.8, RCV000421072.8, RCV000423890.8, RCV000429393.8, RCV000432178.8, RCV000438750.8, RCV000438967.8, RCV000439421.8, RCV001377735.13, ss275515076, ss6408181595 | NC_000001.11:114716125:C:A | NC_000001.11:114716125:C:A | (self) |
| ss8442107660, ss8935520791 | NC_000001.10:115258746:C:G | NC_000001.11:114716125:C:G | (self) |
| RCV000203450.2, RCV000380895.2, RCV000418647.1, RCV000425963.1, RCV000426950.1, RCV000427550.1, RCV000433455.1, RCV000434113.1, RCV000437165.1, RCV000444591.1, RCV000444670.1, RCV001324275.8, RCV001813426.3, ss275515072, ss6408181596 | NC_000001.11:114716125:C:G | NC_000001.11:114716125:C:G | (self) |
| 4913593, 103289, ss712334771, ss1685703232, ss2731737989, ss3823644661, ss8442107661, ss8847552186, ss8935520791, ss8935520792, ss8979286867 | NC_000001.10:115258746:C:T | NC_000001.11:114716125:C:T | (self) |
| RCV000032849.7, RCV000144963.3, RCV000158980.5, RCV000417702.1, RCV000417869.1, RCV000424239.1, RCV000427949.1, RCV000430706.1, RCV000434517.1, RCV000436228.1, RCV000439064.1, RCV000440963.1, RCV001781333.3, RCV001813214.3, RCV001852659.5, RCV003221788.2, RCV003415756.5, RCV004018703.1, 25046495, 2262339668, ss275515057, ss2165908682, ss3687577231, ss6408181597, ss6498724127 | NC_000001.11:114716125:C:T | NC_000001.11:114716125:C:T | (self) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 2278970 | RAS gene mutations in childhood acute myeloid leukemia: a Pediatric Oncology Group study. | Vogelstein B et al. | 1990 | Genes, chromosomes & cancer |
| 2674680 | N-ras mutations in human cutaneous melanoma from sun-exposed body sites. | van 't Veer LJ et al. | 1989 | Molecular and cellular biology |
| 3122217 | RAS gene mutations in acute and chronic myelocytic leukemias, chronic myeloproliferative disorders, and myelodysplastic syndromes. | Janssen JW et al. | 1987 | Proceedings of the National Academy of Sciences of the United States of America |
| 8120410 | Ras mutations in human melanoma: a marker of malignant progression. | Ball NJ et al. | 1994 | The Journal of investigative dermatology |
| 12460918 | BRAF and RAS mutations in human lung cancer and melanoma. | Brose MS et al. | 2002 | Cancer research |
| 14982869 | Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia. | Tartaglia M et al. | 2004 | Blood |
| 15046639 | Constitutive activation of the Ras-Raf signaling pathway in metastatic melanoma is associated with poor prognosis. | Houben R et al. | 2004 | Journal of carcinogenesis |
| 15831708 | Repressible transgenic model of NRAS oncogene-driven mast cell disease in the mouse. | Wiesner SM et al. | 2005 | Blood |
| 15951308 | RAS mutation in acute myeloid leukemia is associated with distinct cytogenetic subgroups but does not influence outcome in patients younger than 60 years. | Bowen DT et al. | 2005 | Blood |
| 16273091 | BRAF mutation predicts sensitivity to MEK inhibition. | Solit DB et al. | 2006 | Nature |
| 16291983 | Distinct sets of genetic alterations in melanoma. | Curtin JA et al. | 2005 | The New England journal of medicine |
| 16434492 | Implications of NRAS mutations in AML: a study of 2502 patients. | Bacher U et al. | 2006 | Blood |
| 17332249 | Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. | Matsuda K et al. | 2007 | Blood |
| 17699718 | AZD6244 (ARRY-142886), a potent inhibitor of mitogen-activated protein kinase/extracellular signal-regulated kinase kinase 1/2 kinases: mechanism of action in vivo, pharmacokinetic/pharmacodynamic relationship, and potential for combination in preclinical models. | Davies BR et al. | 2007 | Molecular cancer therapeutics |
| 18390968 | Phase I pharmacokinetic and pharmacodynamic study of the oral, small-molecule mitogen-activated protein kinase kinase 1/2 inhibitor AZD6244 (ARRY-142886) in patients with advanced cancers. | Adjei AA et al. | 2008 | Journal of clinical oncology |
| 18948947 | Somatic mutations affect key pathways in lung adenocarcinoma. | Ding L et al. | 2008 | Nature |
| 18952898 | RAS oncogene suppression induces apoptosis followed by more differentiated and less myelosuppressive disease upon relapse of acute myeloid leukemia. | Kim WI et al. | 2009 | Blood |
| 19075190 | High-throughput sequencing screen reveals novel, transforming RAS mutations in myeloid leukemia patients. | Tyner JW et al. | 2009 | Blood |
| 19657110 | Recurring mutations found by sequencing an acute myeloid leukemia genome. | Mardis ER et al. | 2009 | The New England journal of medicine |
| 20130576 | RAF inhibitors prime wild-type RAF to activate the MAPK pathway and enhance growth. | Hatzivassiliou G et al. | 2010 | Nature |
| 20179705 | RAF inhibitors transactivate RAF dimers and ERK signalling in cells with wild-type BRAF. | Poulikakos PI et al. | 2010 | Nature |
| 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 |
| 20736745 | NRAS mutations are rare in colorectal cancer. | Irahara N et al. | 2010 | Diagnostic molecular pathology |
| 21305640 | Frequency of KRAS, BRAF, and NRAS mutations in colorectal cancer. | Vaughn CP et al. | 2011 | Genes, chromosomes & cancer |
| 21729679 | Development of molecular biomarkers in individualized treatment of colorectal cancer. | De Mattos-Arruda L et al. | 2011 | Clinical colorectal cancer |
| 21829508 | PIK3CA mutations frequently coexist with RAS and BRAF mutations in patients with advanced cancers. | Janku F et al. | 2011 | PloS one |
| 22144181 | Inhibiting the palmitoylation/depalmitoylation cycle selectively reduces the growth of hematopoietic cells expressing oncogenic Nras. | Xu J et al. | 2012 | Blood |
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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
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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.