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Gene | IDH2 |
Variant | V305M |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | IDH2 V305M does not lie within any known functional domains of the Idh2 protein (UniProt.org). V305M has been identified in the scientific literature (PMID: 34994649), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
IDH2 mutant IDH2 V305M |
Transcript | NM_002168.4 |
gDNA | chr15:g.90087166C>T |
cDNA | c.913G>A |
Protein | p.V305M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002168.4 | chr15:g.90087166C>T | c.913G>A | p.V305M | RefSeq | GRCh38/hg38 |
NM_002168.3 | chr15:g.90087166C>T | c.913G>A | p.V305M | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
IDH2 V305M | malignant epithelioid hemangioendothelioma | predicted - sensitive | Olaparib | Case Reports/Case Series | Actionable | In a Phase II trial (OLAPCO), Lynparza (olaparib) treatment resulted in stable disease lasting 11 months in a patient with pulmonary epithelioid hemangioendothelioma harboring IDH2 V305M (PMID: 34994649, NCT02576444). | 34994649 |