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Gene MLH1
Variant R265C
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MLH1 R265C lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). R265C may confer a partial loss of function to the Mlh1 protein as indicated by reduced mismatch repair (MMR) activity in in-vitro assays (PMID: 20020535, PMID: 17510385) and reduced ability to interact with Pms2 (PMID: 21952876).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 R265C

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Transcript NM_000249.4
gDNA chr3:g.37017508C>T
cDNA c.793C>T
Protein p.R265C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354628.2 chr3:g.37017508C>T c.793C>T p.R265C RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37017508C>T c.793C>T p.R265C RefSeq GRCh38/hg38
NM_000249 chr3:g.37017508C>T c.793C>T p.R265C RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37017508C>T c.793C>T p.R265C RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37017508C>T c.793C>T p.R265C RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37017508C>T c.793C>T p.R265C RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37017508C>T c.793C>T p.R265C RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37017508C>T c.793C>T p.R265C RefSeq GRCh38/hg38
NM_001258271 chr3:g.37017508C>T c.793C>T p.R265C RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37017508C>T c.793C>T p.R265C 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 )
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  • 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