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Gene MSH6
Variant A457V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 A457V lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). A457V has been identified in sequencing studies (PMID: 22622578), 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 A457V

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Transcript NM_000179.3
gDNA chr2:g.47799353C>T
cDNA c.1370C>T
Protein p.A457V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000179 chr2:g.47799353C>T c.1370C>T p.A457V RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47799353C>T c.1370C>T p.A457V RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47799353C>T c.1370C>T p.A457V RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47799353C>T c.1370C>T p.A457V RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47799353C>T c.1370C>T p.A457V RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47799353C>T c.1370C>T p.A457V RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47799353C>T c.1370C>T p.A457V RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47799353C>T c.1370C>T p.A457V RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47799353C>T c.1370C>T p.A457V RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47799353C>T c.1370C>T p.A457V RefSeq GRCh38/hg38
NM_001281492.2 chr2:g.47799743C>T c.1370C>T p.A457V RefSeq GRCh38/hg38
NM_001281492.1 chr2:g.47799743C>T c.1370C>T p.A457V RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47799353C>T c.1370C>T p.A457V RefSeq GRCh38/hg38
NM_001281492 chr2:g.47799743C>T c.1370C>T p.A457V RefSeq GRCh38/hg38

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  • 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries