Gene Variant Detail

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Gene IDH1
Variant R132S
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions IDH1 R132S lies within the active site of the Idh1 protein (PMID: 19228619). R132S 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 (PMID: 19935646, PMID: 21326614).
Associated Drug Resistance
Category Variants Paths

IDH1 mutant IDH1 act mut IDH1 R132S

IDH1 mutant IDH1 R132X IDH1 R132S

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Transcript NM_005896.4
gDNA chr2:g.208248389G>T
cDNA c.394C>A
Protein p.R132S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005896.3 chr2:g.208248389G>T c.394C>A p.R132S RefSeq GRCh38/hg38
NM_001282386 chr2:g.208248389G>T c.394C>A p.R132S RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248389G>T c.394C>A p.R132S RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248389G>T c.394C>A p.R132S RefSeq GRCh38/hg38
NM_005896 chr2:g.208248389G>T c.394C>A p.R132S RefSeq GRCh38/hg38
NM_001282387 chr2:g.208248389G>T c.394C>A p.R132S RefSeq GRCh38/hg38
NM_005896.4 chr2:g.208248389G>T c.394C>A p.R132S RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248389G>T c.394C>A p.R132S RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248389G>T c.394C>A p.R132S RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT04088188 Phase I Cisplatin + Gemcitabine + Pemigatinib Cisplatin + Gemcitabine + Ivosidenib Gemcitabine and Cisplatin With Ivosidenib or Pemigatinib for the Treatment of Unresectable or Metastatic Cholangiocarcinoma 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 | GBR | FRA | ESP | DEU | CAN 3
NCT05921760 Phase Ib/II Ipilimumab + Ivosidenib + Nivolumab Ivosidenib, Nivolumab, and Ipilimumab Combination in Previously Treated Subjects With Nonresectable or Metastatic IDH1 Mutant Cholangiocarcinoma Recruiting USA | GBR 0
NCT06161974 Phase II Olutasidenib + Temozolomide Study of Olutasidenib and Temozolomide in HGG Not yet recruiting USA | NLD | GBR | DEU | CAN | AUS 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
NCT05876754 Phase III Ivosidenib An Early Access Study of Ivosidenib in Patients With a Pretreated Locally Advanced or Metastatic Cholangiocarcinoma (ProvIDHe) Recruiting NLD | ITA | GBR | FRA | ESP | DEU | BEL | AUT | AUS 1
NCT04056910 Phase II Ivosidenib + Nivolumab Ivosidenib (AG-120) With Nivolumab in IDH1 Mutant Tumors Completed USA 0