Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.V617L
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JAK2

NM_004972.4:p.V617L

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

Case report: Double L611S/V617L JAK2 mutation in a patient with polycythemia vera originally diagnosed with essential thrombocythemia.

Li XQ et al.

Frontiers in Oncology, 2022

Reconstructing the Lineage Histories and Differentiation Trajectories of Individual Cancer Cells in Myeloproliferative Neoplasms.

Van Egeren D et al.

Cell Stem Cell, 2021

Activating Janus kinase pseudokinase domain mutations in myeloproliferative and other blood cancers.

Constantinescu SN et al.

Biochemical Society Transactions, 2013

Germline counterparts of oncogenic mutations: who gives a JAK?.

Mead AJ et al.

Oncotarget, 2013

Regulation of JAK2 activation by Janus homology 2: evidence from molecular dynamics simulations.

Wan S et al.

Journal of Chemical Information and Modeling, 2012

JAK2 V617F constitutive activation requires JH2 residue F595: a pseudokinase domain target for specific inhibitors.

Dusa A et al.

Plos One, 2010

Molecular aspects of myeloproliferative neoplasms.

Delhommeau F et al.

International Journal of Hematology, 2010

Aberrant signal transduction pathways in myeloproliferative neoplasms.

Kota J et al.

Leukemia, 2008

Substitution of pseudokinase domain residue Val-617 by large non-polar amino acids causes activation of JAK2.

Dusa A et al.

The Journal of Biological Chemistry, 2008

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