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Gene IDH1
Variant R132H
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions IDH1 R132H lies within the active site of the Idh1 protein (PMID: 19228619). R132H results in decreased conversion of isocitrate to alpha-ketoglutarate by Idh1, but also confers a gain of function to Idh1, as indicated by increased conversion of alpha-ketoglutarate to the onco-metabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture and in vitro assays, and is associated with increased 2HG levels in patient samples (PMID: 19935646, PMID: 23731180).
Associated Drug Resistance
Category Variants Paths

IDH1 mutant IDH1 act mut IDH1 R132H

IDH1 mutant IDH1 R132X IDH1 R132H

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Transcript NM_005896.4
gDNA chr2:g.208248388C>T
cDNA c.395G>A
Protein p.R132H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282387.1 chr2:g.208248388C>T c.395G>A p.R132H RefSeq GRCh38/hg38
NM_001282387 chr2:g.208248388C>T c.395G>A p.R132H RefSeq GRCh38/hg38
NM_005896.4 chr2:g.208248388C>T c.395G>A p.R132H RefSeq GRCh38/hg38
NM_001282386 chr2:g.208248388C>T c.395G>A p.R132H RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248388C>T c.395G>A p.R132H RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248388C>T c.395G>A p.R132H RefSeq GRCh38/hg38
NM_005896 chr2:g.208248388C>T c.395G>A p.R132H RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248388C>T c.395G>A p.R132H RefSeq GRCh38/hg38
NM_005896.3 chr2:g.208248388C>T c.395G>A p.R132H RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT06127407 Phase III Ivosidenib Ivosidenib in Participants With Locally Advanced or Metastatic Conventional Chondrosarcoma Untreated or Previously Treated With 1 Systemic Treatment Regimen (CHONQUER) Recruiting USA | CAN | BRA | AUS 1
NCT03970447 Phase II Lomustine Regorafenib Temozolomide A Trial to Evaluate Multiple Regimens in Newly Diagnosed and Recurrent Glioblastoma (GBM AGILE) Recruiting USA | FRA | DEU | CHE | CAN | AUS 0
NCT02977780 Phase II CC-115 Abemaciclib + Temozolomide Temozolomide Neratinib + Temozolomide INdividualized Screening Trial of Innovative Glioblastoma Therapy (INSIGhT) Recruiting USA 0
NCT03343197 Phase I Ivosidenib Vorasidenib Study of AG-120 and AG-881 in Subjects With Low Grade Glioma Active, not recruiting USA 0
NCT05876754 Phase III Ivosidenib An Early Access Study of Ivosidenib in Patients With a Pretreated Locally Advanced or Metastatic Cholangiocarcinoma (ProvIDHe) Recruiting SWE | ROU | NLD | ITA | IRL | GBR | FRA | ESP | DEU | CAN | BEL | AUT | AUS 2
NCT02525692 Phase II ONC201 Oral ONC201 in Recurrent GBM, H3 K27M Glioma, and Midline Glioma Active, not recruiting USA 0
NCT05609994 Phase I PEPIDH1M vaccine + Vorasidenib ViCToRy: Vorasidenib in Combination With Tumor Specific Peptide Vaccine for Recurrent IDH1 Mutant Lower Grade Gliomas (ViCToRy) Not yet recruiting USA 0
NCT04056910 Phase II Ivosidenib + Nivolumab Ivosidenib (AG-120) With Nivolumab in IDH1 Mutant Tumors Completed USA 0
NCT05303519 Phase II DS-1001b Safusidenib Phase 2 Study in IDH1 Mutant Glioma Recruiting USA 0
NCT06325683 Phase II Nivolumab + Relatlimab Lomustine Anti-Lag-3 (Relatlimab) and Anti-PD-1 Blockade (Nivolumab) Versus Standard of Care (Lomustine) for the Treatment of Patients With Recurrent Glioblastoma Recruiting USA 0
NCT03893903 Phase I Avelumab IDH1 R132H peptide vaccine Avelumab + IDH1 R132H peptide vaccine AMPLIFYing NEOepitope-specific VACcine Responses in Progressive Diffuse Glioma (AMPLIFY-NEOVAC) Active, not recruiting DEU 0
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
NCT03224104 Phase I Radiotherapy + Zotiraciclib Temozolomide + Zotiraciclib Zotiraciclib Study of TG02 in Elderly Newly Diagnosed or Adult Relapsed Patients With Anaplastic Astrocytoma or Glioblastoma (STEAM) Completed NLD | FRA | DEU | CHE | AUT 0
NCT02193347 Phase I Montanide ISA 51 + PEPIDH1M vaccine + Sargramostim + Temozolomide IDH1 Peptide Vaccine for Recurrent Grade II Glioma (RESIST) Completed USA 0
NCT04088188 Phase I Cisplatin + Gemcitabine + Pemigatinib Cisplatin + Gemcitabine + Ivosidenib Gemcitabine and Cisplatin With Ivosidenib or Pemigatinib for the Treatment of Unresectable or Metastatic Cholangiocarcinoma Terminated USA 0
NCT06161974 Phase II Olutasidenib + Temozolomide Study of Olutasidenib and Temozolomide in HGG Not yet recruiting USA | NLD | GBR | DEU | CAN | AUS 0
NCT05921760 Phase Ib/II Ipilimumab + Ivosidenib + Nivolumab Ivosidenib, Nivolumab, and Ipilimumab Combination in Previously Treated Subjects With Nonresectable or Metastatic IDH1 Mutant Cholangiocarcinoma Active, not recruiting USA | GBR 0
NCT05484622 Phase I Vorasidenib Pembrolizumab + Vorasidenib Study of Vorasidenib and Pembrolizumab Combination in Recurrent or Progressive Enhancing IDH-1 Mutant Glioma Recruiting USA 0