MLH1 R265S
Gene Variant Detail

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Gene MLH1
Variant R265S
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MLH1 R265S lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). R265S results in reduced Pms2 and Mlh1 expression and loss of mismatch repair activity in culture (PMID: 36054288) and in an in vitro assay (PMID: 20020535) and demonstrates aberrant Mlh1 splicing in culture (PMID: 36054288).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 R265S

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Transcript NM_000249.4
gDNA chr3:g.37017508C>A
cDNA c.793C>A
Protein p.R265S
Source Database RefSeq
Genome Build GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • 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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  • Click on any column header arrows to sort by that column
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