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IDH2 R172G - Gene Variant Detail

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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

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  • 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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