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Gene IDH2
Variant R140W
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions IDH2 R140W lies within the substrate binding region of the Idh2 protein (UniProt.org). R140W results in decreased conversion of isocitrate to alpha-ketoglutarate (alpha-KG) by Idh2, and also results in increased conversion of alpha-KG to 2HG (R(-)-2-hydroxyglutarate) in an in vitro assay (PMID: 21647154), and therefore, is predicted to lead to a gain of Idh2 protein function.
Associated Drug Resistance
Category Variants Paths

IDH2 mutant IDH2 act mut IDH2 R140W

IDH2 mutant IDH2 R140X IDH2 R140W

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Transcript NM_002168.4
gDNA chr15:g.90088703G>A
cDNA c.418C>T
Protein p.R140W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002168.4 chr15:g.90088703G>A c.418C>T p.R140W RefSeq GRCh38/hg38
NM_002168 chr15:g.90088703G>A c.418C>T p.R140W RefSeq GRCh38/hg38
NM_002168.3 chr15:g.90088703G>A c.418C>T p.R140W RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
IDH2 R140W acute myeloid leukemia sensitive Enasidenib FDA approved - On Companion Diagnostic Actionable In a Phase I/II trial that supported FDA approval, Idhifa (enasidenib) treatment resulted in an overall response rate of 40.3% (71/176) with a median response duration of 5.8 months, complete remission in 19.3% (34/176), and stable disease in 48.3% (85/176) of acute myeloid leukemia patients harboring IDH2 mutations (PMID: 28588020; NCT01915498) and IDH2 R140W is on the companion diagnostic. detail... detail... 28588020