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Gene | MLH1 |
Variant | R687W |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MLH1 R687W lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). R687W results in subcellular localization, protein expression in culture, and mismatch repair activity (MMR) similar to wild-type in an in vitro assay in one study (PMID: 21120944), but in another, results in decreased Mlh1 and Pms2 expression and loss of MMR activity in culture (PMID: 36054288), and therefore, its effect on Mlh1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 R687W |
Transcript | NM_000249.4 |
gDNA | chr3:g.37048973C>T |
cDNA | c.2059C>T |
Protein | p.R687W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249.3 | chr3:g.37048973C>T | c.2059C>T | p.R687W | RefSeq | GRCh38/hg38 |
NM_000249 | chr3:g.37048973C>T | c.2059C>T | p.R687W | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37048973C>T | c.2059C>T | p.R687W | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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