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Gene | MLH1 |
Variant | R217C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MLH1 R217C lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). The functional effect of R217C is conflicting, as it demonstrates mismatch repair activity similar to wild-type Mlh1 in a cell based assay (PMID: 11781295), but also results in impaired interaction with Pms2 (PMID: 27173243), and therefore, its effect on Mlh1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 R217C |
Transcript | NM_000249.4 |
gDNA | chr3:g.37012071C>T |
cDNA | c.649C>T |
Protein | p.R217C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |