MLH1 E663D
Gene Variant Detail

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Gene MLH1
Variant E663D
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 E663D lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). E663D results in mismatch repair activity comparable to wild-type in two of three yeast assays and in an in vitro assay (PMID: 17510385) and retains Mlh1 protein expression and stability in culture (PMID: 31697235), 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 E663D

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Transcript NM_000249.4
gDNA chr3:g.37048609G>C
cDNA c.1989G>C
Protein p.E663D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37048609G>C c.1989G>C p.E663D RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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