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Gene | MLH1 |
Variant | R265C |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | MLH1 R265C lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). R265C may confer a partial loss of function to the Mlh1 protein as indicated by reduced mismatch repair (MMR) activity in in-vitro assays (PMID: 20020535, PMID: 17510385) and reduced ability to interact with Pms2 (PMID: 21952876). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 inact mut MLH1 R265C |
Transcript | NM_000249.4 |
gDNA | chr3:g.37017508C>T |
cDNA | c.793C>T |
Protein | p.R265C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249.3 | chr3:g.37017508C>T | c.793C>T | p.R265C | RefSeq | GRCh38/hg38 |
NM_001258271.1 | chr3:g.37017508C>T | c.793C>T | p.R265C | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37017508C>T | c.793C>T | p.R265C | RefSeq | GRCh38/hg38 |
NM_001354630.1 | chr3:g.37017508C>T | c.793C>T | p.R265C | RefSeq | GRCh38/hg38 |
NM_000249 | chr3:g.37017508C>T | c.793C>T | p.R265C | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37017508C>T | c.793C>T | p.R265C | RefSeq | GRCh38/hg38 |
NM_001354628.1 | chr3:g.37017508C>T | c.793C>T | p.R265C | RefSeq | GRCh38/hg38 |
NM_001258271 | chr3:g.37017508C>T | c.793C>T | p.R265C | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37017508C>T | c.793C>T | p.R265C | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37017508C>T | c.793C>T | p.R265C | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MLH1 R265C | loss of function |