Gene Variant Detail

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Gene MLH1
Variant R9W
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 R9W lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). R9W results in defective mismatch repair (MMR) activity in a functional screen in cultured mouse cells (PMID: 31784484), intermediate MMR activity in an in vitro assay, and decreased Mlh1 and Pms2 expression in cultured cells (PMID: 22736432), and therefore, is predicted to lead to a loss of Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 R9W

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Transcript NM_000249.3
gDNA chr3:g.36993572C>T
cDNA c.25C>T
Protein p.R9W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.3 chr3:g.36993572C>T c.25C>T p.R9W RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.36993572C>T c.25C>T p.R9W RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.36993572C>T c.25C>T p.R9W RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.36993572C>T c.25C>T p.R9W RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.36993572C>T c.25C>T p.R9W RefSeq GRCh38/hg38
NM_001354629.1 chr3:g.36993572C>T c.25C>T p.R9W RefSeq GRCh38/hg38

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References