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Gene | MLH1 |
Variant | G244V |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | MLH1 G244V lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). G244V demonstrates no splicing defects but results in reduced Mlh1 and Pms2 expression and decreased mismatch repair activity in culture (PMID: 36054288), in an in vitro assay, and in yeast assays (PMID: 17510385), and leads to loss of methylation sensitivity in culture (PMID: 30998989). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 inact mut MLH1 G244V |
Transcript | NM_000249.4 |
gDNA | chr3:g.37014485G>T |
cDNA | c.731G>T |
Protein | p.G244V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249.4 | chr3:g.37014485G>T | c.731G>T | p.G244V | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37014485G>T | c.731G>T | p.G244V | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37014485G>T | c.731G>T | p.G244V | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37014485G>T | c.731G>T | p.G244V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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