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| Gene | IDH2 |
| Variant | R172K |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | IDH2 R172K lies within the active site of the Idh2 protein (PMID: 19228619). R172K confers a gain of function to Idh2, as indicated by the increased conversion of alpha-ketoglutarate to the onco-metabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 20171147, PMID: 21326614). |
| Associated Drug Resistance | |
| Category Variants Paths |
IDH2 mutant IDH2 act mut IDH2 R172K IDH2 mutant IDH2 R172X IDH2 R172K |
| Transcript | NM_002168.4 |
| gDNA | chr15:g.90088606C>T |
| cDNA | c.515G>A |
| Protein | p.R172K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002168.3 | chr15:g.90088606C>T | c.515G>A | p.R172K | RefSeq | GRCh38/hg38 |
| NM_002168.4 | chr15:g.90088606C>T | c.515G>A | p.R172K | RefSeq | GRCh38/hg38 |
| NM_002168 | chr15:g.90088606C>T | c.515G>A | p.R172K | RefSeq | GRCh38/hg38 |
| 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 |