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Gene MSH6
Variant S503C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 S503C lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). S503C (corresponding to S502C in mouse) demonstrates proficient mismatch repair activity compared to wild-type protein in in vitro assays (PMID: 22102614, PMID: 31965077), results in levels of tumor development similar to mouse models with wild-type Msh6, but leads to higher levels of serum antinuclear antibodies, decreased lifespan, increased infiltration of immune cells in the lungs, and altered somatic hypermutation in mouse models (PMID: 35708944).
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 S503C

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Transcript NM_000179.3
gDNA chr2:g.47799491C>G
cDNA c.1508C>G
Protein p.S503C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024452820.1 chr2:g.47799674_47799675delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47799491C>G c.1508C>G p.S503C RefSeq GRCh38/hg38
NM_001406820.1 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
NM_001406818.1 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47799491C>G c.1508C>G p.S503C RefSeq GRCh38/hg38
NM_001406819.1 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
NM_001406797.1 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
NM_001406825.1 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
NM_001406824.1 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
NM_000179 chr2:g.47799491C>G c.1508C>G p.S503C RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47799491C>G c.1508C>G p.S503C RefSeq GRCh38/hg38
XM_011532799 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47799491C>G c.1508C>G p.S503C RefSeq GRCh38/hg38
NM_001406822.1 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
NM_001406827.1 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
NM_001406830.1 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47799491C>G c.1508C>G p.S503C RefSeq GRCh38/hg38
NM_001407362.1 chr2:g.47805623A>T c.1507A>T p.S503C RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47799491C>G c.1508C>G p.S503C RefSeq GRCh38/hg38
NM_001406828.1 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47799491C>G c.1508C>G p.S503C RefSeq GRCh38/hg38
XM_011532798 chr2:g.47799674_47799675delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47799491C>G c.1508C>G p.S503C RefSeq GRCh38/hg38
NM_001406805.1 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
XM_024452821.1 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47799491C>G c.1508C>G p.S503C RefSeq GRCh38/hg38
NM_001406801.1 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
NM_001406821.1 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47799491C>G c.1508C>G p.S503C 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 )
  • 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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 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 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...