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Gene MLH1
Variant R522W
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 R522W lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). R522W results in intermediate protein expression compared to wild-type in culture but demonstrates mismatch repair activity similar to wild-type in an in vitro assay (PMID: 23403630), but has not been fully biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 R522W

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Transcript NM_000249.4
gDNA chr3:g.37040191C>T
cDNA c.1564C>T
Protein p.R522W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37040191C>T c.1564C>T p.R522W RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37040191C>T c.1564C>T p.R522W RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37040191C>T c.1564C>T p.R522W RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37040191C>T c.1564C>T p.R522W RefSeq GRCh38/hg38

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  • 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