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Gene MLH1
Variant K618del
Impact List deletion
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 K618del results in the deletion of an amino acid in the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein at amino acid 618 (PMID: 22753075). K618del (reported as K616del) results in altered subcellular localization, reduced protein expression compared to wild-type Mlh1 (PMID: 21120944), and reduced interaction with Pms2 and Exo1 in a yeast two-hybrid assay (PMID: 12810663), and therefore, is predicted to lead to a loss of Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 K618del

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Transcript NM_000249.4
gDNA chr3:g.37047639_37047641delAAG
cDNA c.1852_1854delAAG
Protein p.K618del
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354628.2 chr3:g.37047639_37047641delAAG c.1852_1854delAAG p.K618del RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37047639_37047641delAAG c.1852_1854delAAG p.K618del RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37047639_37047641delAAG c.1852_1854delAAG p.K618del RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References