MLH1 E23D
Gene Variant Detail

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Gene MLH1
Variant E23D
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 E23D lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). E23D results in Mlh1 expression and Pms2 interaction similar to wild-type (PMID: 31697235) and retains mismatch repair (MMR) activity in yeast assays, but results in decreased MMR activity in an in vitro assay (PMID: 17510385), 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 E23D

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Transcript NM_000249.4
gDNA chr3:g.36993616A>C
cDNA c.69A>C
Protein p.E23D
Source Database RefSeq
Genome Build 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")

Sorting

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