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Gene MSH6
Variant R1334W
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 R1334W lies within the ATPase domain of the Msh6 protein (PMID: 17531815). R1334W has been identified in sequencing studies (PMID: 25275298, PMID: 31391288), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Apr 2024).
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 R1334W

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Transcript NM_000179.3
gDNA chr2:g.47806650C>T
cDNA c.4000C>T
Protein p.R1334W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000179.3 chr2:g.47806650C>T c.4000C>T p.R1334W RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47806650C>T c.4000C>T p.R1334W RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47806650_47806784delCGTinsTGG c.4000_4002delCGTinsTGG p.R1334W RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47806650C>T c.4000C>T p.R1334W RefSeq GRCh38/hg38
NM_000179 chr2:g.47806650C>T c.4000C>T p.R1334W RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47806650C>T c.4000C>T p.R1334W RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MSH6 mutant endometrial carcinoma not applicable N/A Guideline Risk Factor Germline mutations in MSH6 result in Lynch syndrome, which is associated with increased risk of developing endometrial carcinoma (NCCN.org). detail...
MSH6 mutant stomach cancer not applicable N/A Guideline Risk Factor Germline mutations in MSH6 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org). detail...
MSH6 mutant pancreatic cancer not applicable N/A Guideline Risk Factor Germline mutations in MSH6 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org). detail...
MSH6 mutant small intestine adenocarcinoma not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org). detail...
MSH6 mutant rectum cancer not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colorectal cancer (NCCN.org). detail...
MSH6 mutant colon cancer not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colon cancer (NCCN.org). detail...
MSH6 mutant ovarian cancer not applicable N/A Guideline Risk Factor Germline mutations in MSH6 result in Lynch syndrome, which is associated with increased risk of ovarian cancer (NCCN.org). detail...
MSH6 mutant colorectal cancer not applicable N/A Clinical Study Diagnostic Germline mutations in MSH6 are associated with microsatellite instability in colorectal cancer (CRC), and are diagnostic for Lynch syndrome (hereditary nonpolyposis colorectal cancer) in colorectal cancer patients (PMID: 26582061; PMID: 19125127). 26582061 19125127