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Gene MLH1
Variant R755W
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 R755W does not lie within any known functional domains of the Mlh1 protein (UniProt.org). R755W results in Pms2 stabilization similar to wild-type Mlh1 (PMID: 16338176), but increased microsatellite instability in cultured cells (PMID: 31784484), 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 R755W

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Transcript NM_000249.4
gDNA chr3:g.37050645A>T
cDNA c.2263A>T
Protein p.R755W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37050645A>T c.2263A>T p.R755W RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37050645A>T c.2263A>T p.R755W 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")

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