Gene Variant Detail

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Gene MSH6
Variant S360I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 S360I lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). S360I is predicted to have no effect on Msh6 protein function by computational analysis (PMID: 23621914), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Apr 2024).
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 S360I

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Transcript NM_000179.3
gDNA chr2:g.47799062G>T
cDNA c.1079G>T
Protein p.S360I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406803.1 chr2:g.47799062G>T c.1079G>T p.S360I RefSeq GRCh38/hg38
NM_001406801.1 chr2:g.47799358_47799359delTCinsAT c.1078_1079delTCinsAT p.S360I RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47799062G>T c.1079G>T p.S360I RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47799062G>T c.1079G>T p.S360I RefSeq GRCh38/hg38
XM_011532799 chr2:g.47799358_47799359delTCinsAT c.1078_1079delTCinsAT p.S360I RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47799062G>T c.1079G>T p.S360I RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47799062G>T c.1079G>T p.S360I RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47799062G>T c.1079G>T p.S360I RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47799062G>T c.1079G>T p.S360I RefSeq GRCh38/hg38
NM_001406824.1 chr2:g.47799358_47799359delTCinsAT c.1078_1079delTCinsAT p.S360I RefSeq GRCh38/hg38
XM_024452821.1 chr2:g.47799358_47799359delTCinsAT c.1078_1079delTCinsAT p.S360I RefSeq GRCh38/hg38
NM_001406821.1 chr2:g.47799358_47799359delTCinsAT c.1078_1079delTCinsAT p.S360I RefSeq GRCh38/hg38
NM_001406830.1 chr2:g.47799358_47799359delTCinsAT c.1078_1079delTCinsAT p.S360I RefSeq GRCh38/hg38
NM_001406805.1 chr2:g.47799358_47799359delTCinsAT c.1078_1079delTCinsAT p.S360I RefSeq GRCh38/hg38
NM_001406818.1 chr2:g.47799358_47799359delTCinsAT c.1078_1079delTCinsAT p.S360I RefSeq GRCh38/hg38
NM_001406802.1 chr2:g.47798966G>T c.1079G>T p.S360I RefSeq GRCh38/hg38
NM_001406819.1 chr2:g.47799358_47799359delTCinsAT c.1078_1079delTCinsAT p.S360I RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47799062G>T c.1079G>T p.S360I RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47799062G>T c.1079G>T p.S360I RefSeq GRCh38/hg38
NM_001406825.1 chr2:g.47799358_47799359delTCinsAT c.1078_1079delTCinsAT p.S360I RefSeq GRCh38/hg38
NM_001406820.1 chr2:g.47799358_47799359delTCinsAT c.1078_1079delTCinsAT p.S360I RefSeq GRCh38/hg38
NM_001406827.1 chr2:g.47799358_47799359delTCinsAT c.1078_1079delTCinsAT p.S360I RefSeq GRCh38/hg38
NM_001406822.1 chr2:g.47799358_47799359delTCinsAT c.1078_1079delTCinsAT p.S360I RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47799062G>T c.1079G>T p.S360I RefSeq GRCh38/hg38
NM_000179 chr2:g.47799062G>T c.1079G>T p.S360I RefSeq GRCh38/hg38
NM_001406795.1 chr2:g.47798966G>T c.1079G>T p.S360I RefSeq GRCh38/hg38
NM_001406797.1 chr2:g.47799358_47799359delTCinsAT c.1078_1079delTCinsAT p.S360I RefSeq GRCh38/hg38
NM_001406828.1 chr2:g.47799358_47799359delTCinsAT c.1078_1079delTCinsAT p.S360I 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 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 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 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 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