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Gene MSH6
Variant L634fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions MSH6 L634fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 634 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). L634fs 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 L634fs

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Transcript NM_000179.3
gDNA chr2:g.(47799882_47799883)
cDNA c.(1900_1899)
Protein p.L634fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406808.1 chr2:g.(47799882_47799883) c.(1900_1899) p.L634fs RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.(47799882_47799883) c.(1900_1899) p.L634fs RefSeq GRCh38/hg38
NM_000179.3 chr2:g.(47799882_47799883) c.(1900_1899) p.L634fs RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.(47799882_47799883) c.(1900_1899) p.L634fs RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.(47799882_47799883) c.(1900_1899) p.L634fs RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.(47799882_47799883) c.(1900_1899) p.L634fs RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.(47799882_47799883) c.(1900_1899) p.L634fs RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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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 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 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 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 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 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 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 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...