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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 act mut IDH2 R140Q IDH2 mutant IDH2 R140X IDH2 R140Q |
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_002168.3 | 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 |
NM_002168 | chr15:g.90088702C>T | c.419G>A | p.R140Q | RefSeq | GRCh38/hg38 |