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Gene IDH1
Variant R100Q
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions IDH1 R100Q lies within the substrate binding region of the Idh1 protein (UniProt.org). R100Q results in a decrease in the wild-type catalytic activity of Idh1 and is also predicted to confer a gain of function to Idh1 as indicated by a modest increase in production of 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 24529257, PMID: 28330869).
Associated Drug Resistance
Category Variants Paths

IDH1 mutant IDH1 act mut IDH1 R100Q

IDH1 mutant IDH1 R100X IDH1 R100Q

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Transcript NM_005896.4
gDNA chr2:g.208248484C>T
cDNA c.299G>A
Protein p.R100Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282387 chr2:g.208248484C>T c.299G>A p.R100Q RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248484C>T c.299G>A p.R100Q RefSeq GRCh38/hg38
NM_005896.3 chr2:g.208248484C>T c.299G>A p.R100Q RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248484C>T c.299G>A p.R100Q RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248484C>T c.299G>A p.R100Q RefSeq GRCh38/hg38
NM_001282386 chr2:g.208248484C>T c.299G>A p.R100Q RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248484C>T c.299G>A p.R100Q RefSeq GRCh38/hg38
NM_005896 chr2:g.208248484C>T c.299G>A p.R100Q RefSeq GRCh38/hg38
NM_005896.4 chr2:g.208248484C>T c.299G>A p.R100Q RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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