MSH6 L585P - Gene Variant Detail

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Gene MSH6
Variant L585P
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MSH6 L585P lies within the connector domain of the Msh6 protein (PMID: 17531815). L585P results in decreased Msh6 stability in cultured cells and loss of mismatch repair activity in an in vitro assay (PMID: 22581703), and therefore, is predicted to lead to a loss of Msh6 protein function.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 inact mut MSH6 L585P

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Transcript NM_000179.3
gDNA chr2:g.47799737T>C
cDNA c.1754T>C
Protein p.L585P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406823.1 chr2:g.47800643T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406824.1 chr2:g.47800034T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406822.1 chr2:g.47800034T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406811.1 chr2:g.47800643T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406819.1 chr2:g.47800034T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406821.1 chr2:g.47800034T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406829.1 chr2:g.47800643T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406815.1 chr2:g.47800643T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406830.1 chr2:g.47800034T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406828.1 chr2:g.47800034T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406805.1 chr2:g.47800034T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406827.1 chr2:g.47800034T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47799737T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47799737T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001281493.2 chr2:g.47800643T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406801.1 chr2:g.47800034T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001281494.2 chr2:g.47800643T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406816.1 chr2:g.47800643T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47799737T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406818.1 chr2:g.47800034T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47799737T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406820.1 chr2:g.47800034T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47799737T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47799737T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406797.1 chr2:g.47800034T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47799737T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47799737T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406825.1 chr2:g.47800034T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47799737T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406814.1 chr2:g.47800643T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406812.1 chr2:g.47800643T>C c.1754T>C p.L585P RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • 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 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 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 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 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 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 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 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