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Gene MLH1
Variant R182G
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 R182G lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). The functional effect of R182G is conflicting as it results in mismatch repair activity comparable to wild-type Mlh1 in yeast assays and in an in vitro assay (PMID: 17510385) but leads to alternative splicing and loss of Mlh1 and Pms2 in a patient sample (PMID: 22773173).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 R182G

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Transcript NM_000249.4
gDNA chr3:g.37008904A>G
cDNA c.544A>G
Protein p.R182G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37008904A>G c.544A>G p.R182G RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37008904A>G c.544A>G p.R182G RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.37008904A>G c.544A>G p.R182G RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37008904A>G c.544A>G p.R182G RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37008904A>G c.544A>G p.R182G RefSeq GRCh38/hg38

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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