KEGG   VARIANT: 3717v1
Entry
3717v1                      Variant                                
Name
JAK2 mutation
Gene
JAK2  Janus kinase 2 [KO:K04447]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 147796
Network
nt06518  JAK-STAT signaling
nt06535  Efferocytosis
Disease
H00003  Acute myeloid leukemia
H00012  Polycythemia vera
H00236  Congenital polycythemia
H01605  Myelofibrosis
H01612  Essential thrombocythemia
Drug target
Momelotinib (DG01366): D10889<US>
Reference
PMID:34625141
  Authors
Luo Y, Alexander M, Gadina M, O'Shea JJ, Meylan F, Schwartz DM
  Title
JAK-STAT signaling in human disease: From genetic syndromes to clinical inhibition.
  Journal
J Allergy Clin Immunol 148:911-925 (2021)
DOI:10.1016/j.jaci.2021.08.004
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