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Gene IDH2
Variant R140Q
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions IDH2 R140Q lies within the substrate binding region of the Idh2 protein (UniProt.org). R140Q confers a gain of function to Idh2, enabling conversion of alpha-ketoglutarate to the onco-metabolite 2HG (R(-)-2-hydroxyglutarate), results in increased 2HG levels in patient samples, and is transforming in cell culture (PMID: 20171147, PMID: 23558173).
Associated Drug Resistance
Category Variants Paths

IDH2 mutant IDH2 R140X IDH2 R140Q

IDH2 mutant IDH2 act mut IDH2 R140Q

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Transcript NM_002168.4
gDNA chr15:g.90088702C>T
cDNA c.419G>A
Protein p.R140Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002168 chr15:g.90088702C>T c.419G>A p.R140Q RefSeq GRCh38/hg38
NM_002168.3 chr15:g.90088702C>T c.419G>A p.R140Q RefSeq GRCh38/hg38
NM_002168.4 chr15:g.90088702C>T c.419G>A p.R140Q 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 R140Q gain of function IDH Inhibitor (Pan) IDH2 Inhibitor
IDH2 R140Q IDH2 Q316E
IDH2 R140Q IDH2 I319M
FLT3 exon 14 ins IDH2 R140Q
IDH1 R132C IDH1 D279N IDH2 R140Q
IDH1 R119P IDH1 R132L IDH2 R140Q
IDH2 R140Q IDH2 H348Q
IDH1 R132L IDH2 R140Q
IDH1 R132C IDH2 R140Q
IDH1 R132H IDH2 R140Q
IDH2 R140Q IDH2 E343V
IDH2 R140Q IDH2 A347T
IDH2 N136S IDH2 R140Q
IDH2 R140Q IDH2 E345G
IDH2 R140Q IDH2 V351I
IDH2 R140Q IDH2 T352A
IDH2 R140Q IDH2 R353H
IDH2 R140Q IDH2 L449V
IDH2 R140Q IDH2 G450S
EML4 - ALK IDH2 R140Q