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Gene | MLH1 |
Variant | R265P |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | MLH1 R265P lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). R265P results in intermediate protein expression compared to wild-type in culture but decreased mismatch repair activity in an in vitro assay (PMID: 29520894), 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 R265P |
Transcript | NM_000249.4 |
gDNA | chr3:g.37017509G>C |
cDNA | c.794G>C |
Protein | p.R265P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354630.2 | chr3:g.37017509G>C | c.794G>C | p.R265P | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37017509G>C | c.794G>C | p.R265P | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37017509G>C | c.794G>C | p.R265P | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37017509G>C | c.794G>C | p.R265P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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