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Gene IDH2
Variant R140G
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions IDH2 R140G lies within the substrate binding region of the Idh2 protein (UniProt.org). R140G has been associated with increased 2-hydroxyglutarate (2-HG) levels in patient samples (PMID: 20847235), 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 R140G

IDH2 mutant IDH2 R140X IDH2 R140G

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Transcript NM_002168.4
gDNA chr15:g.90088703G>C
cDNA c.418C>G
Protein p.R140G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002168 chr15:g.90088703G>C c.418C>G p.R140G RefSeq GRCh38/hg38
NM_002168.3 chr15:g.90088703G>C c.418C>G p.R140G RefSeq GRCh38/hg38
NM_002168.4 chr15:g.90088703G>C c.418C>G p.R140G RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
IDH2 R140G 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 R140G is on the companion diagnostic. detail... detail... 28588020