JAK2 (Tyrosine-protein kinase JAK2) variants and mutations

JAK2 (also known as Tyrosine-protein kinase JAK2) is a human protein-coding gene encoding a tyrosine-protein kinase protein. It transmits signals from erythropoietin, thrombopoietin, growth hormone, and other cytokine receptors into STAT-dependent transcription. The V617F gain-of-function variant is a major driver of polycythemia vera, essential thrombocythemia, and primary myelofibrosis. This analysis covers 2,208 JAK2 variants and mutations. Of these, 80% have computational variant effect predictions. Disease context includes acquired polycythemia vera, primary myelofibrosis, and myelofibrosis. Example JAK2 variants include G2R, G2V, and G2A.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable JAK2 variants

Examples include G2R, G2V, G2A, G2G, M3K, A4D, A4G, A4V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.