Gene Variant Detail

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Gene MSH6
Variant K728T
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions MSH6 K728T lies within the lever domain of the Msh6 protein (PMID: 17531815). K728T results in dimerization with Msh2 similar to wild-type Msh6 in cultured cells and complements mismatch repair activity in Msh6-deficient cells (PMID: 15354210), and therefore, is predicted to have no effect on Msh6 protein function.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 K728T

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Transcript NM_000179.3
gDNA chr2:g.47800166A>C
cDNA c.2183A>C
Protein p.K728T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406811.1 chr2:g.47801072A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_001406814.1 chr2:g.47801072A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47800166A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47800166A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47800166A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_001281494.2 chr2:g.47801072A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47800166A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_001406816.1 chr2:g.47801072A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47800166A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_001406812.1 chr2:g.47801072A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47800166A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47800166A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_001281493.2 chr2:g.47801072A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_001406829.1 chr2:g.47801072A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47800166A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_001406815.1 chr2:g.47801072A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_001406823.1 chr2:g.47801072A>C c.2183A>C p.K728T RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47800166A>C c.2183A>C p.K728T RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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...
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 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 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...