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Gene | MLH1 |
Variant | R182G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MLH1 R182G lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). The functional effect of R182G is conflicting as it results in mismatch repair activity comparable to wild-type Mlh1 in yeast assays and in an in vitro assay (PMID: 17510385) but leads to alternative splicing and loss of Mlh1 and Pms2 in a patient sample (PMID: 22773173). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 R182G |
Transcript | NM_000249.4 |
gDNA | chr3:g.37008904A>G |
cDNA | c.544A>G |
Protein | p.R182G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001258271.2 | chr3:g.37008904A>G | c.544A>G | p.R182G | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37008904A>G | c.544A>G | p.R182G | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37008904A>G | c.544A>G | p.R182G | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37008904A>G | c.544A>G | p.R182G | RefSeq | GRCh38/hg38 |
XM_005265161.3 | chr3:g.37008904A>G | c.544A>G | p.R182G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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