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Gene MLH1
Variant L588P
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MLH1 L588P lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). L588P results in defective mismatch repair (MMR) activity in a functional screen in cultured mouse cells (PMID: 31784484) and decreased MMR activity in an in vitro assay (PMID: 17510385).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 L588P

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Transcript NM_000249.4
gDNA chr3:g.37047550T>C
cDNA c.1763T>C
Protein p.L588P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37047550T>C c.1763T>C p.L588P RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37047550T>C c.1763T>C p.L588P RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37047550T>C c.1763T>C p.L588P RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37047550T>C c.1763T>C p.L588P RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37047550T>C c.1763T>C p.L588P RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37047550T>C c.1763T>C p.L588P 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