MLH1 V185G
Gene Variant Detail

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Gene MLH1
Variant V185G
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MLH1 V185G lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). V185G confers a loss of function on the Mlh1 protein as demonstrated by reduced mismatch repair activity (MMR) in an in vitro assay, altered subcellular localization, and reduced protein expression compared to wild-type in culture (PMID: 21120944).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 V185G

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Transcript NM_000249.4
gDNA chr3:g.37011828T>G
cDNA c.554T>G
Protein p.V185G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354630.1 chr3:g.37011828T>G c.554T>G p.V185G RefSeq GRCh38/hg38
XM_005265161 chr3:g.37011828T>G c.554T>G p.V185G RefSeq GRCh38/hg38
NM_000249 chr3:g.37011828T>G c.554T>G p.V185G RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.37011828T>G c.554T>G p.V185G RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37011828T>G c.554T>G p.V185G RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37011828T>G c.554T>G p.V185G RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37011828T>G c.554T>G p.V185G RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37011828T>G c.554T>G p.V185G RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37011828T>G c.554T>G p.V185G RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.37011828T>G c.554T>G p.V185G RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37011828T>G c.554T>G p.V185G RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37011828T>G c.554T>G p.V185G RefSeq GRCh38/hg38
NM_001258271 chr3:g.37011828T>G c.554T>G p.V185G 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