JAK2 V617F
Gene Variant Detail

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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

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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_004972.4 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_001322196 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_004972.3 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_001322195.2 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
NM_001322194 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

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
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
NCT06313593 Phase I INCB160058 A Study to Evaluate the Safety, Tolerability of INCB160058 in Participants With Myeloproliferative Neoplasms Recruiting USA | NOR | ITA | GBR | FRA | DEU | CHE | CAN 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
NCT04517851 Phase I Elotuzumab Elotuzumab for the Treatment of JAK2-Mutated Myelofibrosis Active, not recruiting USA 0
NCT04644211 Phase II Ruxolitinib Ruxolitinib in Thrombocythemia and Polycythemia Vera Recruiting USA 0
NCT04678336 Phase I CART123 cells Cyclophosphamide + Fludarabine CD123 Redirected T Cells for AML in Pediatric Subjects Terminated USA 0
NCT06768476 Phase I CART123 cells + Ruxolitinib CART123 + Ruxolitinib in Relapsed/Refractory AML (AML) Recruiting USA 0
NCT02689336 Phase II Erlotinib + Temozolomide Erlotinib in Combination With Temozolomide in Treating Relapsed/Recurrent/Refractory Pediatric Solid Tumors Withdrawn 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
NCT06617923 Phase II Senaparib + Temozolomide Study of Senaparib in Combination With Temozolomide in ARID1A Mutation Associated Ovarian Cancer Recruiting USA 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 Active, not 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