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Gene | MLH1 |
Variant | Q689R |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | MLH1 Q689R lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). Q689R has no effect on the Mlh1 protein function as demonstrated by stable Pms2 and Mlh1 expression and functional mismatch repair activity in culture (PMID: 36054288) and in in vitro assays (PMID: 21404117, PMID: 17510385). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 Q689R |
Transcript | NM_000249.4 |
gDNA | chr3:g.37048980A>G |
cDNA | c.2066A>G |
Protein | p.Q689R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249.4 | chr3:g.37048980A>G | c.2066A>G | p.Q689R | RefSeq | GRCh38/hg38 |
NM_000249.3 | chr3:g.37048980A>G | c.2066A>G | p.Q689R | RefSeq | GRCh38/hg38 |
NM_000249 | chr3:g.37048980A>G | c.2066A>G | p.Q689R | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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