Gene Variant Detail

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

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Transcript NM_002168
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

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"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
IDH2 R172K KRAS G12D
IDH2 R172K gain of function IDH Inhibitor (Pan) IDH2 Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
IDH2 R172K KRAS G12D intrahepatic cholangiocarcinoma sensitive Saracatinib Preclinical Actionable In a preclinical study, intrahepatic cholangiocarcinoma cells harboring IDH2 R172K and KRAS G12D demonstrated increased sensitivity to Saracatinib (AZD0530) induced growth inhibition in culture (PMID: 27231123). 27231123
IDH2 R172K KRAS G12D intrahepatic cholangiocarcinoma sensitive Dasatinib Preclinical Actionable In a preclinical study, intrahepatic cholangiocarcinoma cells harboring IDH2 R172K and KRAS G12D demonstrated increased sensitivity to Sprycel (dasatinib) induced growth inhibition in culture and in xenograft models (PMID: 27231123). 27231123
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 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 multiforme 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