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| Gene | IDH2 |
| Variant | K48N |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | IDH2 K48N does not lie within any known functional domains of the Idh2 protein (UniProt.org). K48N has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Dec 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
IDH2 mutant IDH2 K48N |
| Transcript | NM_002168.4 |
| gDNA | chr15:g.90091616C>G |
| cDNA | c.144G>C |
| Protein | p.K48N |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002168.4 | chr15:g.90091616C>G | c.144G>C | p.K48N | RefSeq | GRCh38/hg38 |
| NM_002168 | chr15:g.90091616C>G | c.144G>C | p.K48N | RefSeq | GRCh38/hg38 |
| NM_002168.3 | chr15:g.90091616C>G | c.144G>C | p.K48N | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|