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Gene MSH6
Variant R482Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 R482Q lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). R482Q has been identified in sequencing studies (PMID: 37216304), 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 R482Q

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Transcript NM_000179.3
gDNA chr2:g.47799428G>A
cDNA c.1445G>A
Protein p.R482Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024452819.1 chr2:g.47799428G>A c.1445G>A p.R482Q RefSeq GRCh38/hg38
NM_001406820.1 chr2:g.47799724_47799725delAGinsCA c.1444_1445delAGinsCA p.R482Q RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47799428G>A c.1445G>A p.R482Q RefSeq GRCh38/hg38
NM_001406825.1 chr2:g.47799724_47799725delAGinsCA c.1444_1445delAGinsCA p.R482Q RefSeq GRCh38/hg38
NM_001406830.1 chr2:g.47799724_47799725delAGinsCA c.1444_1445delAGinsCA p.R482Q RefSeq GRCh38/hg38
NM_001406797.1 chr2:g.47799724_47799725delAGinsCA c.1444_1445delAGinsCA p.R482Q RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47799428G>A c.1445G>A p.R482Q RefSeq GRCh38/hg38
NM_001406827.1 chr2:g.47799724_47799725delAGinsCA c.1444_1445delAGinsCA p.R482Q RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47799428G>A c.1445G>A p.R482Q RefSeq GRCh38/hg38
NM_001406822.1 chr2:g.47799724_47799725delAGinsCA c.1444_1445delAGinsCA p.R482Q RefSeq GRCh38/hg38
NM_000179 chr2:g.47799428G>A c.1445G>A p.R482Q RefSeq GRCh38/hg38
NM_001406805.1 chr2:g.47799724_47799725delAGinsCA c.1444_1445delAGinsCA p.R482Q RefSeq GRCh38/hg38
XM_024452821.1 chr2:g.47799724_47799725delAGinsCA c.1444_1445delAGinsCA p.R482Q RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47799428G>A c.1445G>A p.R482Q RefSeq GRCh38/hg38
NM_001406818.1 chr2:g.47799724_47799725delAGinsCA c.1444_1445delAGinsCA p.R482Q RefSeq GRCh38/hg38
NM_001406819.1 chr2:g.47799724_47799725delAGinsCA c.1444_1445delAGinsCA p.R482Q RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47799428G>A c.1445G>A p.R482Q RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47799428G>A c.1445G>A p.R482Q RefSeq GRCh38/hg38
NM_001406824.1 chr2:g.47799724_47799725delAGinsCA c.1444_1445delAGinsCA p.R482Q RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47799428G>A c.1445G>A p.R482Q RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47799428G>A c.1445G>A p.R482Q RefSeq GRCh38/hg38
NM_001406828.1 chr2:g.47799724_47799725delAGinsCA c.1444_1445delAGinsCA p.R482Q RefSeq GRCh38/hg38
NM_001406801.1 chr2:g.47799724_47799725delAGinsCA c.1444_1445delAGinsCA p.R482Q RefSeq GRCh38/hg38
NM_001406821.1 chr2:g.47799724_47799725delAGinsCA c.1444_1445delAGinsCA p.R482Q RefSeq GRCh38/hg38
XM_011532799 chr2:g.47799724_47799725delAGinsCA c.1444_1445delAGinsCA p.R482Q RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47799428G>A c.1445G>A p.R482Q RefSeq GRCh38/hg38

Filtering

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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

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  • 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 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 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 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 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...