Gene Variant Detail

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Gene MLH1
Variant G454R
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions MLH1 G454R lies within the EXO1-interacting region of the Mlh1 protein (PMID: 22753075). G454R results in Mlh1 and Pms2 expression similar to wild-type in culture, mismatch repair activity comparable to wild-type in culture (PMID: 36054288), and retains methylation sensitivity in culture (PMID: 30998989), and therefore, is predicted to have no effect on Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 G454R

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Transcript NM_000249.4
gDNA chr3:g.37025958G>A
cDNA c.1360G>A
Protein p.G454R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271.2 chr3:g.37025958G>A c.1360G>A p.G454R RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37025958G>A c.1360G>A p.G454R RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37025958G>A c.1360G>A p.G454R RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37025958G>A c.1360G>A p.G454R 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 )
  • 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References