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Gene | MLH1 |
Variant | K286Q |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | MLH1 K286Q lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). K286Q results in Mlh1 and Pms2 expression comparable to wild-type in culture and mismatch repair activity comparable to wild-type in culture (PMID: 36054288), in two of three yeast assays, and in an in vitro assay (PMID: 17510385), and therefore, is predicted to have no effect on Mlh1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 K286Q |
Transcript | NM_000249.4 |
gDNA | chr3:g.37017571A>C |
cDNA | c.856A>C |
Protein | p.K286Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001258271.2 | chr3:g.37017571A>C | c.856A>C | p.K286Q | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37017571A>C | c.856A>C | p.K286Q | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37017571A>C | c.856A>C | p.K286Q | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37017571A>C | c.856A>C | p.K286Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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