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Gene | MLH1 |
Variant | P578_E632del |
Impact List | deletion |
Protein Effect | loss of function |
Gene Variant Descriptions | MLH1 P578_E632del results in the deletion of 54 amino acids within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein from aa 578 to aa 632 (UniProt.org). P578_E632del confers a loss of function on the Mlh1 protein as demonstrated by reduced mismatch repair activity (MMR) in an in vitro assay and reduced Pms2 interaction as compared to wild-type (PMID: 21120944). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 inact mut MLH1 P578_E632del |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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