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Gene MLH1
Variant S692P
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 S692P lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). S692P results in reduced expression of Mlh1 and Pms2 but mismatch repair activity comparable to wild-type in culture (PMID: 36054288), 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 S692P

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Transcript NM_000249.4
gDNA chr3:g.37048988T>C
cDNA c.2074T>C
Protein p.S692P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37048988T>C c.2074T>C p.S692P 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References