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IDH2 R140L - Gene Variant Detail

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Gene IDH2
Variant R140L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions IDH2 R140L lies within the substrate binding region of the Idh2 protein (UniProt.org). R140L has been identified in the scientific literature (PMID: 29448963, PMID: 38980314, PMID: 36064577), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

IDH2 mutant IDH2 R140X IDH2 R140L

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Transcript NM_002168.4
gDNA chr15:g.90088702C>A
cDNA c.419G>T
Protein p.R140L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002168.3 chr15:g.90088702C>A c.419G>T p.R140L RefSeq GRCh38/hg38
NM_002168 chr15:g.90088702C>A c.419G>T p.R140L RefSeq GRCh38/hg38
NM_002168.4 chr15:g.90088702C>A c.419G>T p.R140L RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
IDH2 R140L 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 R140L is on the companion diagnostic. detail... detail... 28588020