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| Gene | IDH2 |
| Variant | R140G |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | IDH2 R140G lies within the substrate binding region of the Idh2 protein (UniProt.org). R140G results in decreased Idh2 stability, enzymatic activity, proliferation, and Akt phosphorylation, and decreased glycolysis but increased mitochondrial oxidative phosphorylation in cultured cells (PMID: 36335201), and has been associated with increased 2-hydroxyglutarate (2-HG) levels in patient samples (PMID: 20847235), 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 R140G IDH2 mutant IDH2 R140X IDH2 R140G |
| Transcript | NM_002168.4 |
| gDNA | chr15:g.90088703G>C |
| cDNA | c.418C>G |
| Protein | p.R140G |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002168 | chr15:g.90088703G>C | c.418C>G | p.R140G | RefSeq | GRCh38/hg38 |
| NM_002168.4 | chr15:g.90088703G>C | c.418C>G | p.R140G | RefSeq | GRCh38/hg38 |
| NM_002168.3 | chr15:g.90088703G>C | c.418C>G | p.R140G | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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