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Gene MSH6
Variant K125fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions MSH6 K125fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 125 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). K125fs has not been characterized, however, due to the loss of several functional domains including the ATPase domain (PMID: 17531815, PMID: 23391514), is predicted to lead to a loss of Msh6 protein function.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 inact mut MSH6 K125fs

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Transcript NM_000179.3
gDNA chr2:g.(47791038_47791039)
cDNA c.(373_372)
Protein p.K125fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000179.3 chr2:g.(47791038_47791039) c.(373_372) p.K125fs RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.(47791038_47791039) c.(373_372) p.K125fs RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.(47791038_47791039) c.(373_372) p.K125fs RefSeq GRCh38/hg38
NM_001407362.1 chr2:g.(47791038_47791039) c.(373_372) p.K125fs RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.(47791038_47791039) c.(373_372) p.K125fs RefSeq GRCh38/hg38
NM_000179.2 chr2:g.(47791038_47791039) c.(373_372) p.K125fs RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.(47791038_47791039) c.(373_372) p.K125fs RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.(47791038_47791039) c.(373_372) p.K125fs RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.(47791038_47791039) c.(373_372) p.K125fs RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.(47791038_47791039) c.(373_372) p.K125fs RefSeq GRCh38/hg38
NM_001406813.1 chr2:g.(47791038_47791039) c.(373_372) p.K125fs RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.(47791038_47791039) c.(373_372) p.K125fs 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 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 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
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 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 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 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 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...