Gene Variant Detail

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Gene IDH2
Variant R140X
Impact List missense
Protein Effect unknown
Gene Variant Descriptions IDH2 R140X indicates any Idh2 missense mutation that results in the replacement of the arginine (R) at amino acid 140 by a different amino acid. R140 variants are hotspot mutations in Idh2, which may confer a gain of function to the Idh2 protein resulting in conversion of alpha-ketoglutarate to the onco-metabolite 2HG (R(-)-2-hydroxyglutarate) (PMID: 23071358, PMID: 27621679).
Associated Drug Resistance
Category Variants Paths

IDH2 mutant IDH2 R140X

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Transcript NM_002168.3
gDNA chr15:g.90088701_90088703
cDNA c.418_420
Protein p.R140
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002168 chr15:g.90088701_90088703 c.418_420 p.R140 RefSeq GRCh38/hg38
NM_002168.3 chr15:g.90088701_90088703 c.418_420 p.R140 RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT03383575 Phase II Azacitidine + Enasidenib Enasidenib Azacitidine and Enasidenib in Treating Patients With IDH2-Mutant Myelodysplastic Syndrome 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) Recruiting FRA | ESP | DEU | BEL | AUT | AUS 9
NCT03515512 Phase I Enasidenib IDH2 Inhibition Using Enasidenib as Maintenance Therapy for IDH2-mutant Myeloid Neoplasms Following Allogeneic Stem Cell Transplantation Active, not recruiting USA 0
NCT04603001 Phase I LY3410738 Study of Oral LY3410738 in Patients With Advanced Hematologic Malignancies With IDH1 or IDH2 Mutations Active, not recruiting USA | FRA | ESP | DEU | CAN | BEL | AUS 5
NCT04092179 Phase Ib/II Enasidenib + Venetoclax Study of Enasidenib and Venetoclax in IDH2-Mutated Blood Cancers Active, not recruiting CAN 0
NCT02677922 Phase Ib/II Azacitidine + Ivosidenib Azacitidine Azacitidine + Enasidenib A Safety and Efficacy Study of Oral AG-120 Plus Subcutaneous Azacitidine and Oral AG-221 Plus Subcutaneous Azacitidine in Subjects With Newly Diagnosed Acute Myeloid Leukemia (AML) Active, not recruiting USA | ITA | GBR | FRA | ESP | DEU | CAN | AUS 4
NCT03914742 Phase Ib/II Pamiparib + Temozolomide BGB-290 and Temozolomide in Treating Patients With Recurrent Gliomas With IDH1/2 Mutations Active, not recruiting USA 0
NCT05441514 Phase I Cobimetinib + Enasidenib Enasidenib in Combination With Cobimetinib for the Treatment of Relapsed or Refractory Acute Myeloid Leukemia 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
NCT04522895 Phase II Enasidenib IDH2-Post-Allo-Trial for Patients With IDH2-mut Myeloid Neoplasms After Allo-SCT Active, not recruiting DEU 0