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Gene MSH6
Variant C88W
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 C88W does not lie within any known functional domains of the Msh6 protein (UniProt.org). C88W has been identified in sequencing studies (PMID: 22941188, PMID: 26168399), 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 C88W

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Transcript NM_000179.3
gDNA chr2:g.47790930T>G
cDNA c.264T>G
Protein p.C88W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407362.1 chr2:g.47790930T>G c.264T>G p.C88W RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47790930T>G c.264T>G p.C88W RefSeq GRCh38/hg38
NM_001406813.1 chr2:g.47790930T>G c.264T>G p.C88W RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47790930T>G c.264T>G p.C88W RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47790930T>G c.264T>G p.C88W RefSeq GRCh38/hg38
NM_000179 chr2:g.47790930T>G c.264T>G p.C88W RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47790930T>G c.264T>G p.C88W RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47790930T>G c.264T>G p.C88W RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47790930T>G c.264T>G p.C88W RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47790930T>G c.264T>G p.C88W RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47790930T>G c.264T>G p.C88W RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47790930T>G c.264T>G p.C88W RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47790930T>G c.264T>G p.C88W RefSeq GRCh38/hg38

Filtering

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

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