Gene Variant Detail

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Gene IDH2
Variant R172K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions IDH2 R172K lies within the active site of the Idh2 protein (PMID: 19228619). R172K confers a gain of function to Idh2, as indicated by the increased conversion of alpha-ketoglutarate to the onco-metabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 20171147, PMID: 21326614).
Associated Drug Resistance
Category Variants Paths

IDH2 mutant IDH2 act mut IDH2 R172K

IDH2 mutant IDH2 R172X IDH2 R172K

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Transcript NM_002168.3
gDNA chr15:g.90088606C>T
cDNA c.515G>A
Protein p.R172K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002168 chr15:g.90088606C>T c.515G>A p.R172K RefSeq GRCh38/hg38
NM_002168.3 chr15:g.90088606C>T c.515G>A p.R172K RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
IDH2 R172K 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 R172K is on the companion diagnostic. detail... detail... 28588020
IDH2 R172K acute myeloid leukemia sensitive Enasidenib Preclinical - Patient cell culture Actionable In a preclinical study, Enasidenib (AG-221) decreased 2-hydroxyglutarate (2HG) levels and induced differentiation of leukemic blasts from acute myeloid leukemia (AML) patients harboring IDH2 R172K in culture (PMID: 28193778). 28193778
IDH2 R172K glioblastoma predicted - sensitive Enasidenib Preclinical - Cell culture Actionable In a preclinical study, Enasidenib (AG-221) decreased 2-hydroxyglutarate (2HG) levels in a glioblastoma cell line expressing IDH2 R172K in culture (PMID: 28193778). 28193778
IDH2 R172K colorectal cancer predicted - sensitive Enasidenib Preclinical - Cell culture Actionable In a preclinical study, Enasidenib (AG-221) decreased 2-hydroxyglutarate (2HG) levels in a colorectal carcinoma cell line expressing IDH2 R172K in culture (PMID: 28193778). 28193778
IDH2 R172K high grade glioma sensitive TQ05310 Preclinical - Cell culture Actionable In a preclinical study, TQ05310 treatment decreased 2-HG levels and increased differentiation in a glioma cell line expressing IDH2 R172K in culture (PMID: 31361380). 31361380
IDH2 R172K acute myeloid leukemia sensitive TQ05310 Preclinical - Cell culture Actionable In a preclinical study, TQ05310 treatment decreased 2-HG levels and increased differentiation in an acute myeloid leukemia cell line expressing IDH2 R172K in culture (PMID: 31361380). 31361380