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Gene IDH2
Variant R172X
Impact List missense
Protein Effect unknown
Gene Variant Descriptions IDH2 R172X indicates any Idh2 missense mutation that results in the replacement of the arginine (R) at amino acid 172 by a different amino acid. R172 variants are hotspot mutations in Idh2, which may confer a gain of function to Idh2 resulting in conversion of alpha-ketoglutarate to the onco-metabolite 2HG (R(-)-2-hydroxyglutarate) (PMID: 28711227, PMID: 21326614, PMID: 25495392).
Associated Drug Resistance
Category Variants Paths

IDH2 mutant IDH2 R172X

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Transcript NM_002168.4
gDNA chr15:g.90088605_90088607
cDNA c.514_516
Protein p.R172
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002168.4 chr15:g.90088605_90088607 c.514_516 p.R172 RefSeq GRCh38/hg38
NM_002168 chr15:g.90088605_90088607 c.514_516 p.R172 RefSeq GRCh38/hg38
NM_002168.3 chr15:g.90088605_90088607 c.514_516 p.R172 RefSeq GRCh38/hg38

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  • 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
NCT03914742 Phase Ib/II Pamiparib + Temozolomide BGB-290 and Temozolomide in Treating Patients With Recurrent Gliomas With IDH1/2 Mutations Completed USA 0
NCT04522895 Phase II Enasidenib IDH2-Post-Allo-Trial for Patients With IDH2-mut Myeloid Neoplasms After Allo-SCT Completed DEU 0
NCT04603001 Phase I LY3410738 Study of Oral LY3410738 in Patients With Advanced Hematologic Malignancies With IDH1 or IDH2 Mutations Active, not recruiting USA | ISR | FRA | FIN | ESP | DEU | CAN | BEL | AUS 3
NCT05441514 Phase I Cobimetinib + Enasidenib Enasidenib in Combination With Cobimetinib for the Treatment of Relapsed or Refractory Acute Myeloid Leukemia Recruiting USA 0
NCT06176989 Phase II Enasidenib Enasidenib in IDH2-Mutated Malignant Sinonasal and Skull Base Tumors Recruiting USA 0
NCT03839771 Phase III Ivosidenib Enasidenib A Study of Ivosidenib or Enasidenib in Combination With Induction Therapy and Consolidation Therapy, Followed by Maintenance Therapy in Patients With Newly Diagnosed Acute Myeloid Leukemia or Myedysplastic Syndrome EB2, With an IDH1 or IDH2 Mutation, Respectively, Eligible for Intensive Chemotherapy (HOVON150AML) Active, not recruiting SWE | NOR | NLD | LUX | LTU | IRL | FRA | FIN | EST | ESP | DEU | CHE | BEL | AUT | AUS 0
NCT03383575 Phase II Azacitidine + Enasidenib Enasidenib Azacitidine and Enasidenib in Treating Patients With IDH2-Mutant Myelodysplastic Syndrome Recruiting USA 0
NCT03515512 Phase I Enasidenib IDH2 Inhibition Using Enasidenib as Maintenance Therapy for IDH2-mutant Myeloid Neoplasms Following Allogeneic Stem Cell Transplantation Completed USA 0
NCT04092179 Phase Ib/II Enasidenib + Venetoclax Study of Enasidenib and Venetoclax in IDH2-Mutated Blood Cancers Terminated CAN 0
NCT03528642 Phase I Radiotherapy + Telaglenastat + Temozolomide Telaglenastat With Radiation Therapy and Temozolomide in Treating Patients With IDH-Mutated Diffuse Astrocytoma or Anaplastic Astrocytoma Active, not recruiting USA 0
NCT04521686 Phase I LY3410738 Study of LY3410738 Administered to Patients With Advanced Solid Tumors With IDH1 or IDH2 Mutations Active, not recruiting USA | FRA | ESP | AUS 5