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| Gene | IDH2 |
| Variant | A47V |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | IDH2 A47V does not lie within any known functional domains of the Idh2 protein (UniProt.org). A47V has an associated gene expression profile similar to wild-type Idh2 (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Nov 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
IDH2 mutant IDH2 A47V |
| Transcript | NM_002168.4 |
| gDNA | chr15:g.90091620G>A |
| cDNA | c.140C>T |
| Protein | p.A47V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002168.4 | chr15:g.90091620G>A | c.140C>T | p.A47V | RefSeq | GRCh38/hg38 |
| NM_002168.3 | chr15:g.90091620G>A | c.140C>T | p.A47V | RefSeq | GRCh38/hg38 |
| NM_002168 | chr15:g.90091620G>A | c.140C>T | p.A47V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| IDH2 A47V | unknown |