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Gene MLH1
Variant P654L
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MLH1 P654L lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). P654L confers a loss of function to the Mlh1 protein as indicated by its prediction to be pathogenic based on an in silico analysis (PMID: 22753075), a loss of mismatch repair activity (MMR) in an in-vitro assay (PMID: 20020535), altered subcellular localization, and reduced protein expression as compared to wild-type (PMID: 21120944).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 P654L

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Transcript NM_000249.4
gDNA chr3:g.37048581C>T
cDNA c.1961C>T
Protein p.P654L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249 chr3:g.37048581C>T c.1961C>T p.P654L RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37050508C>T c.1961C>T p.P654L RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37048581C>T c.1961C>T p.P654L RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37050508C>T c.1961C>T p.P654L RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37048581C>T c.1961C>T p.P654L RefSeq 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References