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Gene | MSH6 |
Variant | G557D |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | MSH6 G557D lies within the connector domain of the Msh6 protein (PMID: 17531815). G557D (corresponds to G556D in mouse) results in impaired mismatch binding and deficient mismatch repair activity in in vitro assays (PMID: 31965077), and therefore, is predicted to lead to a loss of Msh6 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MSH6 mutant MSH6 inact mut MSH6 G557D |
Transcript | NM_000179.3 |
gDNA | chr2:g.47799653G>A |
cDNA | c.1670G>A |
Protein | p.G557D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000179.3 | chr2:g.47799653G>A | c.1670G>A | p.G557D | RefSeq | GRCh38/hg38 |
NM_000179.2 | chr2:g.47799653G>A | c.1670G>A | p.G557D | RefSeq | GRCh38/hg38 |
XM_024452819.1 | chr2:g.47799653G>A | c.1670G>A | p.G557D | RefSeq | GRCh38/hg38 |
NM_001406803.1 | chr2:g.47799653G>A | c.1670G>A | p.G557D | RefSeq | GRCh38/hg38 |
NM_001406800.1 | chr2:g.47799653G>A | c.1670G>A | p.G557D | RefSeq | GRCh38/hg38 |
NM_001406809.1 | chr2:g.47799653G>A | c.1670G>A | p.G557D | RefSeq | GRCh38/hg38 |
NM_001406808.1 | chr2:g.47799653G>A | c.1670G>A | p.G557D | RefSeq | GRCh38/hg38 |
NM_001406798.1 | chr2:g.47799653G>A | c.1670G>A | p.G557D | RefSeq | GRCh38/hg38 |
NM_000179 | chr2:g.47799653G>A | c.1670G>A | p.G557D | RefSeq | GRCh38/hg38 |
NM_001406796.1 | chr2:g.47799653G>A | c.1670G>A | p.G557D | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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