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Gene IDH2
Variant R140W
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions IDH2 R140W lies within the substrate binding region of the Idh2 protein (UniProt.org). R140W results in decreased conversion of isocitrate to alpha-ketoglutarate (alpha-KG) by Idh2, and also results in increased conversion of alpha-KG to 2HG (R(-)-2-hydroxyglutarate) in an in vitro assay (PMID: 21647154), and therefore, is predicted to lead to a gain of Idh2 protein function.
Associated Drug Resistance
Category Variants Paths

IDH2 mutant IDH2 act mut IDH2 R140W

IDH2 mutant IDH2 R140X IDH2 R140W

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Transcript NM_002168.4
gDNA chr15:g.90088703G>A
cDNA c.418C>T
Protein p.R140W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002168 chr15:g.90088703G>A c.418C>T p.R140W RefSeq GRCh38/hg38
NM_002168.3 chr15:g.90088703G>A c.418C>T p.R140W RefSeq GRCh38/hg38
NM_002168.4 chr15:g.90088703G>A c.418C>T p.R140W 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.
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Molecular Profile Protein Effect Treatment Approaches
IDH2 R140W gain of function - predicted IDH Inhibitor (Pan) IDH2 Inhibitor
FLT3 Y599_D600insSTDNEYFYVDFREYEY IDH2 R140W