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Gene MSH6
Variant V424G
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MSH6 V424G lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). V424G (corresponds to V423G 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 V424G

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Transcript NM_000179.3
gDNA chr2:g.47799254T>G
cDNA c.1271T>G
Protein p.V424G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406800.1 chr2:g.47799254T>G c.1271T>G p.V424G RefSeq GRCh38/hg38
NM_001406804.1 chr2:g.47799332T>G c.1271T>G p.V424G RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47799254T>G c.1271T>G p.V424G RefSeq GRCh38/hg38
NM_000179 chr2:g.47799254T>G c.1271T>G p.V424G RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47799254T>G c.1271T>G p.V424G RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47799254T>G c.1271T>G p.V424G RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47799254T>G c.1271T>G p.V424G RefSeq GRCh38/hg38
NM_001406826.1 chr2:g.47799422T>G c.1271T>G p.V424G RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47799254T>G c.1271T>G p.V424G RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47799254T>G c.1271T>G p.V424G RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47799254T>G c.1271T>G p.V424G RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47799254T>G c.1271T>G p.V424G RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47799254T>G c.1271T>G p.V424G RefSeq GRCh38/hg38

Filtering

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

Sorting

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Molecular Profile Protein Effect Treatment Approaches
MSH6 V424G loss of function - predicted