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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.

rs112445441

Current Build 157

Released September 3, 2024

Organism
Homo sapiens
Position
chr12:25245347 (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=0.0000014 (2/1400292, GnomAD_exomes)
T=0.000020 (3/149168, GnomAD_genomes)
T=0.00000 (0/11862, ALFA)
Clinical Significance
Reported in ClinVar
Gene : Consequence
KRAS : Missense Variant
Publications
40 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.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 11862 C=1.00000 T=0.00000 1.0 0.0 0.0 N/A
European Sub 7618 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Sub 2816 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 108 C=1.000 T=0.000 1.0 0.0 0.0 N/A
African American Sub 2708 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 C=1.000 T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Sub 470 C=1.000 T=0.000 1.0 0.0 0.0 N/A


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 1400292 C=0.9999986 T=0.0000014
gnomAD v4 - Exomes European Sub 1164708 C=0.9999983 T=0.0000017
gnomAD v4 - Exomes South Asian Sub 85972 C=1.00000 T=0.00000
gnomAD v4 - Exomes American Sub 44658 C=1.00000 T=0.00000
gnomAD v4 - Exomes East Asian Sub 39666 C=1.00000 T=0.00000
gnomAD v4 - Exomes African Sub 33466 C=1.00000 T=0.00000
gnomAD v4 - Exomes Ashkenazi Jewish Sub 26054 C=1.00000 T=0.00000
gnomAD v4 - Exomes Middle Eastern sub 5768 C=1.0000 T=0.0000
gnomAD v4 - Genomes Global Study-wide 149168 C=0.999980 T=0.000020
gnomAD v4 - Genomes European Sub 78644 C=0.99996 T=0.00004
gnomAD v4 - Genomes African Sub 41430 C=1.00000 T=0.00000
gnomAD v4 - Genomes American Sub 15280 C=1.00000 T=0.00000
gnomAD v4 - Genomes East Asian Sub 5202 C=1.0000 T=0.0000
gnomAD v4 - Genomes South Asian Sub 4824 C=1.0000 T=0.0000
gnomAD v4 - Genomes Ashkenazi Jewish Sub 3472 C=1.0000 T=0.0000
gnomAD v4 - Genomes Middle Eastern sub 316 C=1.000 T=0.000
Allele Frequency Aggregator Total Global 11862 C=1.00000 T=0.00000
Allele Frequency Aggregator European Sub 7618 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2816 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Other Sub 470 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 108 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 94 C=1.00 T=0.00
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 12 NC_000012.12:g.25245347C>A
GRCh38.p14 chr 12 NC_000012.12:g.25245347C>G
GRCh38.p14 chr 12 NC_000012.12:g.25245347C>T
GRCh37.p13 chr 12 NC_000012.11:g.25398281C>A
GRCh37.p13 chr 12 NC_000012.11:g.25398281C>G
GRCh37.p13 chr 12 NC_000012.11:g.25398281C>T
KRAS RefSeqGene (LRG_344) NG_007524.2:g.10657G>T
KRAS RefSeqGene (LRG_344) NG_007524.2:g.10657G>C
KRAS RefSeqGene (LRG_344) NG_007524.2:g.10657G>A
Gene: KRAS, KRAS proto-oncogene, GTPase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
KRAS transcript variant b NM_004985.5:c.38G>T G [GGC] > V [GTC] Coding Sequence Variant
GTPase KRas isoform b NP_004976.2:p.Gly13Val G (Gly) > V (Val) Missense Variant
KRAS transcript variant b NM_004985.5:c.38G>C G [GGC] > A [GCC] Coding Sequence Variant
GTPase KRas isoform b NP_004976.2:p.Gly13Ala G (Gly) > A (Ala) Missense Variant
KRAS transcript variant b NM_004985.5:c.38G>A G [GGC] > D [GAC] Coding Sequence Variant
GTPase KRas isoform b NP_004976.2:p.Gly13Asp G (Gly) > D (Asp) Missense Variant
KRAS transcript variant a NM_033360.4:c.38G>T G [GGC] > V [GTC] Coding Sequence Variant
GTPase KRas isoform a NP_203524.1:p.Gly13Val G (Gly) > V (Val) Missense Variant
KRAS transcript variant a NM_033360.4:c.38G>C G [GGC] > A [GCC] Coding Sequence Variant
GTPase KRas isoform a NP_203524.1:p.Gly13Ala G (Gly) > A (Ala) Missense Variant
KRAS transcript variant a NM_033360.4:c.38G>A G [GGC] > D [GAC] Coding Sequence Variant
GTPase KRas isoform a NP_203524.1:p.Gly13Asp G (Gly) > D (Asp) Missense Variant
KRAS transcript variant d NM_001369787.1:c.38G>T G [GGC] > V [GTC] Coding Sequence Variant
GTPase KRas isoform b NP_001356716.1:p.Gly13Val G (Gly) > V (Val) Missense Variant
KRAS transcript variant d NM_001369787.1:c.38G>C G [GGC] > A [GCC] Coding Sequence Variant
GTPase KRas isoform b NP_001356716.1:p.Gly13Ala G (Gly) > A (Ala) Missense Variant
KRAS transcript variant d NM_001369787.1:c.38G>A G [GGC] > D [GAC] Coding Sequence Variant
GTPase KRas isoform b NP_001356716.1:p.Gly13Asp G (Gly) > D (Asp) Missense Variant
KRAS transcript variant c NM_001369786.1:c.38G>T G [GGC] > V [GTC] Coding Sequence Variant
GTPase KRas isoform a NP_001356715.1:p.Gly13Val G (Gly) > V (Val) Missense Variant
KRAS transcript variant c NM_001369786.1:c.38G>C G [GGC] > A [GCC] Coding Sequence Variant
GTPase KRas isoform a NP_001356715.1:p.Gly13Ala G (Gly) > A (Ala) Missense Variant
KRAS transcript variant c NM_001369786.1:c.38G>A G [GGC] > D [GAC] Coding Sequence Variant
GTPase KRas isoform a NP_001356715.1:p.Gly13Asp G (Gly) > D (Asp) Missense Variant
KRAS transcript variant X1 XM_047428826.1:c.38G>T G [GGC] > V [GTC] Coding Sequence Variant
GTPase KRas isoform X1 XP_047284782.1:p.Gly13Val G (Gly) > V (Val) Missense Variant
KRAS transcript variant X1 XM_047428826.1:c.38G>C G [GGC] > A [GCC] Coding Sequence Variant
GTPase KRas isoform X1 XP_047284782.1:p.Gly13Ala G (Gly) > A (Ala) Missense Variant
KRAS transcript variant X1 XM_047428826.1:c.38G>A G [GGC] > D [GAC] Coding Sequence Variant
GTPase KRas isoform X1 XP_047284782.1:p.Gly13Asp G (Gly) > D (Asp) 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: A (allele ID: 54291 )
ClinVar Accession Disease Names Clinical Significance
RCV000038270.13 Non-small cell lung carcinoma Pathogenic
RCV000422238.9 Thyroid tumor Likely-Pathogenic
RCV000439931.9 Neoplasm of the large intestine Pathogenic
RCV001355269.10 not provided Pathogenic
Allele: G (allele ID: 362846 )
ClinVar Accession Disease Names Clinical Significance
RCV000431622.1 Neoplasm of the large intestine Pathogenic
RCV000444986.1 Non-small cell lung carcinoma Pathogenic
Allele: T (allele ID: 27619 )
ClinVar Accession Disease Names Clinical Significance
RCV000013409.11 Breast adenocarcinoma Pathogenic
RCV000038269.7 Non-small cell lung carcinoma Pathogenic
RCV000144967.9 Juvenile myelomonocytic leukemia Pathogenic
RCV000144968.9 Autoimmune lymphoproliferative syndrome type 4 Pathogenic
RCV000421576.2 Neoplasm of the large intestine Pathogenic
RCV000427102.2 Thyroid tumor Pathogenic
RCV000431806.2 Acute myeloid leukemia Likely-Pathogenic
RCV000444192.2 Ovarian neoplasm Pathogenic
RCV000791297.4 OCULOECTODERMAL SYNDROME, SOMATIC Pathogenic
RCV001092389.28 not provided Pathogenic
RCV001266168.3 Inborn genetic diseases Pathogenic
RCV001526657.3 Nevus sebaceous Pathogenic
RCV001813183.4 Noonan syndrome and Noonan-related syndrome Uncertain-Significance
RCV001839444.3 Encephalocraniocutaneous lipomatosis Not-Provided
RCV001857340.4 RASopathy Pathogenic
RCV004549358.1 KRAS-related disorder 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 C= A G T
GRCh38.p14 chr 12 NC_000012.12:g.25245347= NC_000012.12:g.25245347C>A NC_000012.12:g.25245347C>G NC_000012.12:g.25245347C>T
GRCh37.p13 chr 12 NC_000012.11:g.25398281= NC_000012.11:g.25398281C>A NC_000012.11:g.25398281C>G NC_000012.11:g.25398281C>T
KRAS RefSeqGene (LRG_344) NG_007524.2:g.10657= NG_007524.2:g.10657G>T NG_007524.2:g.10657G>C NG_007524.2:g.10657G>A
KRAS transcript variant b NM_004985.5:c.38= NM_004985.5:c.38G>T NM_004985.5:c.38G>C NM_004985.5:c.38G>A
KRAS transcript variant b NM_004985.4:c.38= NM_004985.4:c.38G>T NM_004985.4:c.38G>C NM_004985.4:c.38G>A
KRAS transcript variant b NM_004985.3:c.38= NM_004985.3:c.38G>T NM_004985.3:c.38G>C NM_004985.3:c.38G>A
KRAS transcript variant a NM_033360.4:c.38= NM_033360.4:c.38G>T NM_033360.4:c.38G>C NM_033360.4:c.38G>A
KRAS transcript variant a NM_033360.3:c.38= NM_033360.3:c.38G>T NM_033360.3:c.38G>C NM_033360.3:c.38G>A
KRAS transcript variant a NM_033360.2:c.38= NM_033360.2:c.38G>T NM_033360.2:c.38G>C NM_033360.2:c.38G>A
KRAS transcript variant c NM_001369786.1:c.38= NM_001369786.1:c.38G>T NM_001369786.1:c.38G>C NM_001369786.1:c.38G>A
KRAS transcript variant d NM_001369787.1:c.38= NM_001369787.1:c.38G>T NM_001369787.1:c.38G>C NM_001369787.1:c.38G>A
KRAS transcript variant X1 XM_047428826.1:c.38= XM_047428826.1:c.38G>T XM_047428826.1:c.38G>C XM_047428826.1:c.38G>A
GTPase KRas isoform b NP_004976.2:p.Gly13= NP_004976.2:p.Gly13Val NP_004976.2:p.Gly13Ala NP_004976.2:p.Gly13Asp
GTPase KRas isoform a NP_203524.1:p.Gly13= NP_203524.1:p.Gly13Val NP_203524.1:p.Gly13Ala NP_203524.1:p.Gly13Asp
GTPase KRas isoform a NP_001356715.1:p.Gly13= NP_001356715.1:p.Gly13Val NP_001356715.1:p.Gly13Ala NP_001356715.1:p.Gly13Asp
GTPase KRas isoform b NP_001356716.1:p.Gly13= NP_001356716.1:p.Gly13Val NP_001356716.1:p.Gly13Ala NP_001356716.1:p.Gly13Asp
GTPase KRas isoform X1 XP_047284782.1:p.Gly13= XP_047284782.1:p.Gly13Val XP_047284782.1:p.Gly13Ala XP_047284782.1:p.Gly13Asp
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#.

15 SubSNP, 3 Frequency, 22 ClinVar submissions
No Submitter Submission ID Date (Build)
1 MPIMG-CANCERGENOMICS ss218178530 Jul 04, 2010 (132)
2 DF-BWCC ss275515419 Nov 22, 2010 (133)
3 DF-BWCC ss275515421 Nov 22, 2010 (133)
4 DF-BWCC ss275515424 Nov 22, 2010 (133)
5 OMIM-CURATED-RECORDS ss275518590 Dec 08, 2010 (133)
6 GNOMAD ss2739690343 Nov 08, 2017 (151)
7 GNOMAD ss6446343757 Nov 04, 2024 (157)
8 GNOMAD ss6904380660 Nov 04, 2024 (157)
9 CSS-BFX ss8442109681 Nov 04, 2024 (157)
10 CSS-BFX ss8442109682 Nov 04, 2024 (157)
11 CSS-BFX ss8442109683 Nov 04, 2024 (157)
12 EVA ss8623898439 Nov 04, 2024 (157)
13 EVA ss8936100291 Nov 04, 2024 (157)
14 EVA ss8981470286 Nov 04, 2024 (157)
15 EVA ss8981755492 Nov 04, 2024 (157)
16 gnomAD v4 - Exomes NC_000012.12 - 25245347 Nov 04, 2024 (157)
17 gnomAD v4 - Genomes NC_000012.12 - 25245347 Nov 04, 2024 (157)
18 ALFA NC_000012.12 - 25245347 Nov 04, 2024 (157)
19 ClinVar RCV000013409.11 Nov 04, 2024 (157)
20 ClinVar RCV000038269.7 Nov 04, 2024 (157)
21 ClinVar RCV000038270.13 Nov 04, 2024 (157)
22 ClinVar RCV000144967.9 Nov 04, 2024 (157)
23 ClinVar RCV000144968.9 Nov 04, 2024 (157)
24 ClinVar RCV000421576.2 Nov 04, 2024 (157)
25 ClinVar RCV000422238.9 Nov 04, 2024 (157)
26 ClinVar RCV000427102.2 Nov 04, 2024 (157)
27 ClinVar RCV000431622.1 Oct 12, 2018 (152)
28 ClinVar RCV000431806.2 Nov 04, 2024 (157)
29 ClinVar RCV000439931.9 Nov 04, 2024 (157)
30 ClinVar RCV000444192.2 Nov 04, 2024 (157)
31 ClinVar RCV000444986.1 Oct 12, 2018 (152)
32 ClinVar RCV000791297.4 Nov 04, 2024 (157)
33 ClinVar RCV001092389.28 Nov 04, 2024 (157)
34 ClinVar RCV001266168.3 Nov 04, 2024 (157)
35 ClinVar RCV001355269.10 Nov 04, 2024 (157)
36 ClinVar RCV001526657.3 Nov 04, 2024 (157)
37 ClinVar RCV001813183.4 Nov 04, 2024 (157)
38 ClinVar RCV001839444.3 Nov 04, 2024 (157)
39 ClinVar RCV001857340.4 Nov 04, 2024 (157)
40 ClinVar RCV004549358.1 Nov 04, 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
ss8442109681, ss8936100291 NC_000012.11:25398280:C:A NC_000012.12:25245346:C:A (self)
RCV000038270.13, RCV000422238.9, RCV000439931.9, RCV001355269.10, ss275515424 NC_000012.12:25245346:C:A NC_000012.12:25245346:C:A (self)
ss8442109682, ss8936100291 NC_000012.11:25398280:C:G NC_000012.12:25245346:C:G (self)
RCV000431622.1, RCV000444986.1, ss275515419 NC_000012.12:25245346:C:G NC_000012.12:25245346:C:G (self)
ss2739690343, ss8442109683, ss8623898439, ss8936100291, ss8981470286, ss8981755492 NC_000012.11:25398280:C:T NC_000012.12:25245346:C:T (self)
RCV000013409.11, RCV000038269.7, RCV000144967.9, RCV000144968.9, RCV000421576.2, RCV000427102.2, RCV000431806.2, RCV000444192.2, RCV000791297.4, RCV001092389.28, RCV001266168.3, RCV001526657.3, RCV001813183.4, RCV001839444.3, RCV001857340.4, RCV004549358.1, 41670264, 431627445, 11034271252, ss275515421, ss275518590, ss6446343757, ss6904380660 NC_000012.12:25245346:C:T NC_000012.12:25245346:C:T (self)
ss218178530 NT_009714.17:18158404:C:T NC_000012.12:25245346:C:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

40 citations for rs112445441
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
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
3627975 The human c-Kirsten ras gene is activated by a novel mutation in codon 13 in the breast carcinoma cell line MDA-MB231. Kozma SC et al. 1987 Nucleic acids research
12460918 BRAF and RAS mutations in human lung cancer and melanoma. Brose MS et al. 2002 Cancer research
15696205 KRAS mutations and primary resistance of lung adenocarcinomas to gefitinib or erlotinib. Pao W et al. 2005 PLoS medicine
16361624 Randomized phase II trial of the clinical and biological effects of two dose levels of gefitinib in patients with recurrent colorectal adenocarcinoma. Rothenberg ML et al. 2005 Journal of clinical oncology
16434492 Implications of NRAS mutations in AML: a study of 2502 patients. Bacher U et al. 2006 Blood
16618717 KRAS mutation status is predictive of response to cetuximab therapy in colorectal cancer. Lièvre A et al. 2006 Cancer research
17332249 Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. Matsuda K et al. 2007 Blood
17384584 Hyperactive Ras in developmental disorders and cancer. Schubbert S et al. 2007 Nature reviews. Cancer
18316791 Wild-type KRAS is required for panitumumab efficacy in patients with metastatic colorectal cancer. Amado RG et al. 2008 Journal of clinical oncology
18794081 Frequency and distinctive spectrum of KRAS mutations in never smokers with lung adenocarcinoma. Riely GJ et al. 2008 Clinical 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
19075190 High-throughput sequencing screen reveals novel, transforming RAS mutations in myeloid leukemia patients. Tyner JW et al. 2009 Blood
19114683 Fluorouracil, leucovorin, and oxaliplatin with and without cetuximab in the first-line treatment of metastatic colorectal cancer. Bokemeyer C et al. 2009 Journal of clinical oncology
19255327 Phase II trial of sorafenib in metastatic thyroid cancer. Kloos RT et al. 2009 Journal of clinical oncology
19679400 Frequency and type of KRAS mutations in routine diagnostic analysis of metastatic colorectal cancer. Neumann J et al. 2009 Pathology, research and practice
19773371 Beneficial effects of sorafenib on tumor progression, but not on radioiodine uptake, in patients with differentiated thyroid carcinoma. Hoftijzer H et al. 2009 European journal of endocrinology
19794967 Clinical implications of KRAS mutations in lung cancer patients treated with tyrosine kinase inhibitors: an important role for mutations in minor clones. Marchetti A et al. 2009 Neoplasia (New York, N.Y.)
20921462 Randomized phase III study of panitumumab with fluorouracil, leucovorin, and irinotecan (FOLFIRI) compared with FOLFIRI alone as second-line treatment in patients with metastatic colorectal cancer. Peeters M et al. 2010 Journal of clinical oncology
20921465 Randomized, phase III trial of panitumumab with infusional fluorouracil, leucovorin, and oxaliplatin (FOLFOX4) versus FOLFOX4 alone as first-line treatment in patients with previously untreated metastatic colorectal cancer: the PRIME study. Douillard JY et al. 2010 Journal of clinical oncology
21063026 Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation. Takagi M et al. 2011 Blood
21228335 Efficacy according to biomarker status of cetuximab plus FOLFOX-4 as first-line treatment for metastatic colorectal cancer: the OPUS study. Bokemeyer C et al. 2011 Annals of oncology
21398618 Effect of simvastatin on cetuximab resistance in human colorectal cancer with KRAS mutations. Lee J et al. 2011 Journal of the National Cancer Institute
21975775 Epidermal growth factor receptor blockers for the treatment of ovarian cancer. Haldar K et al. 2011 The Cochrane database of systematic reviews
22392911 Inhibition of MEK and PI3K/mTOR suppresses tumor growth but does not cause tumor regression in patient-derived xenografts of RAS-mutant colorectal carcinomas. Migliardi G et al. 2012 Clinical cancer research
22407852 RAS mutations are frequent in FAB type M4 and M5 of acute myeloid leukemia, and related to late relapse: a study of the Japanese Childhood AML Cooperative Study Group. Sano H et al. 2012 International journal of hematology
22734028 Association of KRAS G13D tumor mutations with outcome in patients with metastatic colorectal cancer treated with first-line chemotherapy with or without cetuximab. Tejpar S et al. 2012 Journal of clinical oncology
22992668 Pharmacogenomics knowledge for personalized medicine. Whirl-Carrillo M et al. 2012 Clinical pharmacology and therapeutics
23071293 Clinical outcome of Japanese metastatic colorectal cancer patients harbouring the KRAS p.G13D mutation treated with cetuximab + irinotecan. Bando H et al. 2012 Japanese journal of clinical oncology
23090619 Association between KRAS codon 13 mutations and clinical response to anti-EGFR treatment in patients with metastatic colorectal cancer: results from a meta-analysis. Chen J et al. 2013 Cancer chemotherapy and pharmacology
23182985 Mutant KRAS codon 12 and 13 alleles in patients with metastatic colorectal cancer: assessment as prognostic and predictive biomarkers of response to panitumumab. Peeters M et al. 2013 Journal of clinical oncology
23406027 Selumetinib-enhanced radioiodine uptake in advanced thyroid cancer. Ho AL et al. 2013 The New England journal of medicine
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical genetics
24558511 KRAS G13D Mutation and Sensitivity to Cetuximab or Panitumumab in a Colorectal Cancer Cell Line Model. Kumar SS et al. 2014 Gastrointestinal cancer research
24628546 Development and characterization of a differentiated thyroid cancer cell line resistant to VEGFR-targeted kinase inhibitors. Isham CR et al. 2014 The Journal of clinical endocrinology and metabolism
25157968 Prospective enterprise-level molecular genotyping of a cohort of cancer patients. MacConaill LE et al. 2014 The Journal of molecular diagnostics
25808193 Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations. Peacock JD et al. 2015 American journal of medical genetics. Part A
26371285 Phase II study of single-agent cetuximab in KRAS G13D mutant metastatic colorectal cancer. Schirripa M et al. 2015 Annals of oncology
26623049 Cetuximab treatment for metastatic colorectal cancer with KRAS p.G13D mutations improves progression-free survival. Osumi H et al. 2015 Molecular and clinical oncology
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
Top 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.

Software version is: 2.0.1.post825+45319f0