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Gene | MLH1 |
Variant | K618R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MLH1 K618R lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). K618R results in reduced protein expression in patient samples (PMID: 11807791, PMID: 19863800) and is associated with microsatellite instability in a patient sample (PMID: 19863800), and results in intermediate Mlh1 expression in culture, interaction with Pms2 similar to wild-type in a yeast-two-hybrid assay (PMID: 21404117), but has not been fully biochemically characterized and therefore, its effect on Mlh1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 K618R |
Transcript | NM_000249.4 |
gDNA | chr3:g.37047640A>G |
cDNA | c.1853A>G |
Protein | p.K618R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249.4 | chr3:g.37047640A>G | c.1853A>G | p.K618R | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37047640A>G | c.1853A>G | p.K618R | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37047640A>G | c.1853A>G | p.K618R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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