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Gene | JAK2 |
Variant | V617F |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | JAK2 V617F lies within the protein kinase domain 1 of the Jak2 protein (UniProt.org). V617F results in constitutive activation of Jak2 and downstream Stat5 and Erk, is transforming in cell culture, and leads to development of erythrocytosis in mouse models (PMID: 15858187, PMID: 15837627, PMID: 15793561, PMID: 28473624). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 act mut JAK2 V617F |
Transcript | NM_004972.4 |
gDNA | chr9:g.5073770G>T |
cDNA | c.1849G>T |
Protein | p.V617F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322196 | chr9:g.5073770G>T | c.1849G>T | p.V617F | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5073770G>T | c.1849G>T | p.V617F | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5073770G>T | c.1849G>T | p.V617F | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5073770G>T | c.1849G>T | p.V617F | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5073770G>T | c.1849G>T | p.V617F | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5073770G>T | c.1849G>T | p.V617F | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5073770G>T | c.1849G>T | p.V617F | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5073770G>T | c.1849G>T | p.V617F | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5073770G>T | c.1849G>T | p.V617F | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.5073770G>T | c.1849G>T | p.V617F | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5073770G>T | c.1849G>T | p.V617F | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5073770G>T | c.1849G>T | p.V617F | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|---|---|---|---|---|---|
NCT02689336 | Phase II | Erlotinib + Temozolomide | Erlotinib in Combination With Temozolomide in Treating Relapsed/Recurrent/Refractory Pediatric Solid Tumors | Withdrawn | 0 | |
NCT04678336 | Phase I | CART123 cells Cyclophosphamide + Fludarabine | CD123 Redirected T Cells for AML in Pediatric Subjects | Recruiting | USA | 0 |
NCT06093672 | Phase III | Givinostat Hydroxyurea | Study on Efficacy and Safety of Givinostat Versus Hydroxyurea in Patients With Polycythemia Vera (GIV-IN PV) | Recruiting | USA | POL | NLD | ITA | ISR | IRL | HUN | HRV | GBR | FRA | ESP | DEU | BGR | AUT | 1 |
NCT06313593 | Phase I | INCB160058 | A Study to Evaluate the Safety, Tolerability of INCB160058 in Participants With Myeloproliferative Neoplasms | Recruiting | USA | 0 |
NCT03854474 | Phase Ib/II | Pembrolizumab + Tazemetostat | Testing the Addition of Tazemetostat to the Immunotherapy Drug, Pembrolizumab (MK-3475), in Advanced Urothelial Carcinoma | Active, not recruiting | USA | CAN | 0 |
NCT04644211 | Phase II | Ruxolitinib | Ruxolitinib in Thrombocythemia and Polycythemia Vera | Recruiting | USA | 0 |
NCT05890352 | Phase II | Lenalidomide + Tafasitamab-cxix Lenalidomide + Tafasitamab-cxix + Tazemetostat Lenalidomide + Tafasitamab-cxix + Zanubrutinib | Study Adding Drugs to Usual Treatment for Large B-Cell Lymphoma That Returned or Did Not Respond to Treatment | Recruiting | USA | 0 |
NCT04116502 | Phase III | Ruxolitinib Hydroxyurea Alpha 2 Interferon | MITHRIDATE: Ruxolitinib Versus Hydroxycarbamide or Interferon as First Line Therapy in High Risk Polycythemia Vera (MITHRIDATE) | Recruiting | GBR | 0 |
NCT04557956 | Phase Ib/II | Tazemetostat Dabrafenib + Tazemetostat + Trametinib | Testing the Addition of the Anti-cancer Drug, Tazemetostat, to the Usual Treatment (Dabrafenib and Trametinib) for Metastatic Melanoma That Has Progressed on the Usual Treatment | Recruiting | USA | 0 |
NCT04517851 | Phase I | Elotuzumab | Elotuzumab for the Treatment of JAK2-Mutated Myelofibrosis | Active, not recruiting | USA | 0 |