MLH1 R687W
Gene Variant Detail

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Gene MLH1
Variant R687W
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 R687W lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). R687W results in subcellular localization, protein expression in culture, and mismatch repair activity (MMR) similar to wild-type in an in vitro assay in one study (PMID: 21120944), but in another, results in decreased Mlh1 and Pms2 expression and loss of MMR activity in culture (PMID: 36054288), and therefore, its effect on Mlh1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 R687W

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Transcript NM_000249.4
gDNA chr3:g.37048973C>T
cDNA c.2059C>T
Protein p.R687W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37048973C>T c.2059C>T p.R687W RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37048973C>T c.2059C>T p.R687W RefSeq GRCh38/hg38
NM_000249 chr3:g.37048973C>T c.2059C>T p.R687W 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References