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 signaling (PMID: 15837627, PMID: 15793561, PMID: 28473624), is transforming in cell culture (PMID: 15858187, PMID: 15793561), and leads to development of erythrocytosis in mouse models (PMID: 15793561).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 V617F

JAK2 mutant JAK2 V617X 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_001322194.2 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_001322195 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_001322196.2 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_001322194.1 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_001322195.2 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_004972.3 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

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
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
NCT06313593 Phase I INCB160058 A Study to Evaluate the Safety, Tolerability of INCB160058 in Participants With Myeloproliferative Neoplasms Active, not recruiting USA | NOR | ITA | GBR | FRA | DEU | CHE | CAN 0
NCT06617923 Phase II Senaparib + Temozolomide Study of Senaparib in Combination With Temozolomide in ARID1A Mutation Associated Ovarian Cancer Active, not recruiting USA 0
NCT07886801 Phase II Ropeginterferon A Study of Ropeg-Interferon in People With Polycythemia Vera Not yet recruiting USA 0
NCT04678336 Phase I CART123 cells Cyclophosphamide + Fludarabine CD123 Redirected T Cells for AML in Pediatric Subjects Terminated USA 0
NCT02689336 Phase II Erlotinib + Temozolomide Erlotinib in Combination With Temozolomide in Treating Relapsed/Recurrent/Refractory Pediatric Solid Tumors Withdrawn 0
NCT04644211 Phase II Ruxolitinib Ruxolitinib in Thrombocythemia and Polycythemia Vera Recruiting USA 0
NCT04517851 Phase I Elotuzumab Elotuzumab for the Treatment of JAK2-Mutated Myelofibrosis Active, not 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
NCT06768476 Phase I CART123 cells + Ruxolitinib CART123 + Ruxolitinib in Relapsed/Refractory AML (AML) Active, not 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
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
NCT06093672 Phase III Givinostat Hydroxyurea Study on Efficacy and Safety of Givinostat Versus Hydroxyurea in Patients With Polycythemia Vera (GIV-IN PV) Recruiting USA | TUR | POL | NLD | ITA | ISR | IRL | HUN | HRV | GBR | FRA | ESP | DEU | BGR | AUT 1