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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

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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_001354630.2 chr3:g.37014485G>T c.731G>T p.G244V RefSeq GRCh38/hg38
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

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • 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