Gene Variant Detail

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Gene IDH1
Variant R100A
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions IDH1 R100A lies within the substrate binding region of the Idh1 protein (UniProt.org). R100A results in decreased binding and catalysis of isocitrate by Idh1 and reduced isocitrate-dependent NADPH production (PMID: 21996744, PMID: 20975740), and is predicted to confer a gain of function to Idh1, as indicated by increased production of the onco-metabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 21996744).
Associated Drug Resistance

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Transcript NM_005896
gDNA chr2:g.208248484_208248485delCGinsGC
cDNA c.298_299delCGinsGC
Protein p.R100A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282387 chr2:g.208248484_208248485delCGinsGC c.298_299delCGinsGC p.R100A RefSeq GRCh38/hg38
NM_001282386 chr2:g.208248484_208248485delCGinsGC c.298_299delCGinsGC p.R100A RefSeq GRCh38/hg38
NM_005896 chr2:g.208248484_208248485delCGinsGC c.298_299delCGinsGC p.R100A RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • 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
Molecular Profile Protein Effect Treatment Approaches
IDH1 R100A gain of function - predicted