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Gene MSH6
Variant A457D
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 A457D lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). A457D has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 A457D

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Transcript NM_000179.3
gDNA chr2:g.47799353C>A
cDNA c.1370C>A
Protein p.A457D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001281492.2 chr2:g.47799743_47799744delCAinsAC c.1370_1371delCAinsAC p.A457D RefSeq GRCh38/hg38
NM_000179 chr2:g.47799353C>A c.1370C>A p.A457D RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47799353C>A c.1370C>A p.A457D RefSeq GRCh38/hg38
NM_001281492.1 chr2:g.47799743_47799744delCAinsAC c.1370_1371delCAinsAC p.A457D RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47799353C>A c.1370C>A p.A457D RefSeq GRCh38/hg38
NM_001281492 chr2:g.47799743_47799744delCAinsAC c.1370_1371delCAinsAC p.A457D RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47799353C>A c.1370C>A p.A457D RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47799353C>A c.1370C>A p.A457D RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47799353C>A c.1370C>A p.A457D RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47799353C>A c.1370C>A p.A457D RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47799353C>A c.1370C>A p.A457D RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47799353C>A c.1370C>A p.A457D RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47799353C>A c.1370C>A p.A457D RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47799353C>A c.1370C>A p.A457D 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries