IDH2 R172W
Gene Variant Detail

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Gene IDH2
Variant R172W
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions IDH2 R172W lies within the active site of the Idh2 protein (PMID: 19228619). R172W results in protein stability similar to wild-type, decreased enzymatic activity, proliferation, Akt phosphorylation, and Ccnd1 expression, increased Tnf expression, and decreased glycolysis but increased mitochondrial oxidative phosphorylation in culture (PMID: 36335201), and is associated with increased 2-hydroxyglutarate (2-HG) levels in patient samples (PMID: 34829476, PMID: 22180306), and therefore, is predicted to lead to a gain of Idh2 protein function.
Associated Drug Resistance
Category Variants Paths

IDH2 mutant IDH2 act mut IDH2 R172W

IDH2 mutant IDH2 R172X IDH2 R172W

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Transcript NM_002168.4
gDNA chr15:g.90088607T>A
cDNA c.514A>T
Protein p.R172W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002168.4 chr15:g.90088607T>A c.514A>T p.R172W RefSeq GRCh38/hg38
NM_002168.3 chr15:g.90088607T>A c.514A>T p.R172W RefSeq GRCh38/hg38
NM_002168 chr15:g.90088607T>A c.514A>T p.R172W RefSeq GRCh38/hg38

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  • 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")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT03953898 Phase II Olaparib Using the Anticancer Drug Olaparib to Treat Relapsed/Refractory Acute Myeloid Leukemia or Myelodysplastic Syndrome With an Isocitrate Dehydrogenase (IDH) Mutation Active, not recruiting USA 0
NCT04164901 Phase III Vorasidenib Study of Vorasidenib (AG-881) in Participants With Residual or Recurrent Grade 2 Glioma With an IDH1 or IDH2 Mutation (INDIGO) Active, not recruiting USA | NLD | ITA | ISR | GBR | FRA | ESP | DEU | CHE | CAN 1