Gene Variant Detail

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Gene MLH1
Variant V180G
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 V180G lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). V180G results in defective mismatch repair (MMR) activity in a functional screen in cultured mouse cells (PMID: 31784484), and therefore, is predicted to lead to a loss of Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 V180G

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Transcript NM_000249.4
gDNA chr3:g.37008899T>G
cDNA c.539T>G
Protein p.V180G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265161.2 chr3:g.37008899T>G c.539T>G p.V180G RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37008899T>G c.539T>G p.V180G RefSeq GRCh38/hg38
XM_047448152.1 chr3:g.37012060T>G c.539T>G p.V180G RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37008899T>G c.539T>G p.V180G RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37008899T>G c.539T>G p.V180G RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.37008899T>G c.539T>G p.V180G RefSeq GRCh38/hg38
NM_001354629.1 chr3:g.37012060T>G c.539T>G p.V180G RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37008899T>G c.539T>G p.V180G RefSeq GRCh38/hg38
NM_001354629.2 chr3:g.37012060T>G c.539T>G p.V180G RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37008899T>G c.539T>G p.V180G RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37008899T>G c.539T>G p.V180G RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37008899T>G c.539T>G p.V180G RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37008899T>G c.539T>G p.V180G 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