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| Gene | IDH2 |
| Variant | L449V |
| Impact List | missense |
| Protein Effect | no effect - predicted |
| Gene Variant Descriptions | IDH2 L449V does not lie within any known functional domains of the Idh2 protein (UniProt.org). L449V does not lead to increased production of the oncometabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 36222845), and therefore, is predicted to have no effect on Idh2 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
IDH2 mutant IDH2 L449V |
| Transcript | NM_002168.4 |
| gDNA | chr15:g.90084280G>C |
| cDNA | c.1345C>G |
| Protein | p.L449V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002168.4 | chr15:g.90084280G>C | c.1345C>G | p.L449V | RefSeq | GRCh38/hg38 |
| NM_002168.3 | chr15:g.90084280G>C | c.1345C>G | p.L449V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|