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Gene MLH1
Variant K618R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 K618R lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). K618R results in reduced protein expression in patient samples (PMID: 11807791, PMID: 19863800) and is associated with microsatellite instability in a patient sample (PMID: 19863800), and results in intermediate Mlh1 expression in culture, interaction with Pms2 similar to wild-type in a yeast-two-hybrid assay (PMID: 21404117), 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 K618R

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Transcript NM_000249.4
gDNA chr3:g.37047640A>G
cDNA c.1853A>G
Protein p.K618R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37047640A>G c.1853A>G p.K618R RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37047640A>G c.1853A>G p.K618R RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37047640A>G c.1853A>G p.K618R RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries