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Gene IDH2
Variant R172G
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions IDH2 R172G lies within the active site of the Idh2 protein (PMID: 19228619). R172G results in decreased Idh2 enzymatic activity as indicated by reduced production of NADPH in culture (PMID: 21326614, PMID: 19228619), and confers a gain of function to Idh2 as indicated by production of 2HG (R(-)-2-hydroxyglutarate), and leads to activation of HIF-1-alpha signaling and nuclear accumulation of beta-catenin in cell culture (PMID: 22309944, PMID: 21326614).
Associated Drug Resistance
Category Variants Paths

IDH2 mutant IDH2 act mut IDH2 R172G

IDH2 mutant IDH2 R172X IDH2 R172G

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Transcript NM_002168.4
gDNA chr15:g.90088607T>C
cDNA c.514A>G
Protein p.R172G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002168 chr15:g.90088607T>C c.514A>G p.R172G RefSeq GRCh38/hg38
NM_002168.3 chr15:g.90088607T>C c.514A>G p.R172G RefSeq GRCh38/hg38
NM_002168.4 chr15:g.90088607T>C c.514A>G p.R172G 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")

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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
IDH2 R172G gain of function IDH Inhibitor (Pan) IDH2 Inhibitor