MLH1 I219V
Gene Variant Detail

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Gene MLH1
Variant I219V
Impact List missense
Protein Effect no effect
Gene Variant Descriptions MLH1 I219V lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). I219V is a common polymorphism with activity comparable to wild-type Mlh1 (PMID: 20020535) as demonstrated by functional mismatch repair activity in culture (PMID: 36054288) and in in vitro assays and protein expression comparable to wild-type Mlh1 (PMID: 21120944, PMID: 31881334, PMID: 23403630), and subcellular localization similar to wild-type (PMID: 21120944, PMID: 31881334).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 I219V

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Transcript NM_000249.4
gDNA chr3:g.37012077A>G
cDNA c.655A>G
Protein p.I219V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265161 chr3:g.37012077A>G c.655A>G p.I219V RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37012077A>G c.655A>G p.I219V RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37012077A>G c.655A>G p.I219V RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37012077A>G c.655A>G p.I219V RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37012077A>G c.655A>G p.I219V RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.37012077A>G c.655A>G p.I219V RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37012077A>G c.655A>G p.I219V RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.37012077A>G c.655A>G p.I219V RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37012077A>G c.655A>G p.I219V RefSeq GRCh38/hg38
NM_001258271 chr3:g.37012077A>G c.655A>G p.I219V RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37012077A>G c.655A>G p.I219V RefSeq GRCh38/hg38
NM_000249 chr3:g.37012077A>G c.655A>G p.I219V RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37012077A>G c.655A>G p.I219V 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries