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IDH2 R172M - Gene Variant Detail

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Gene IDH2
Variant R172M
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions IDH2 R172M lies within the active site of the Idh2 protein (PMID: 19228619). R172M confers a gain of function to the Idh2 protein as indicated by increased production of 2HG (R(-)-2-hydroxyglutarate) in cultured cells (PMID: 21326614, PMID: 27577048).
Associated Drug Resistance
Category Variants Paths

IDH2 mutant IDH2 act mut IDH2 R172M

IDH2 mutant IDH2 R172X IDH2 R172M

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Transcript NM_002168.4
gDNA chr15:g.90088606C>A
cDNA c.515G>T
Protein p.R172M
Source Database RefSeq
Genome Build GRCh38/hg38

Filtering

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  • 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

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