KEGG   VARIANT: 4352v1
Entry
4352v1                      Variant                                
Name
MPL mutation
Type
Gain of function
Gene
MPL  MPL proto-oncogene, thrombopoietin receptor [KO:K05082]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 159530
Network
nt06518  JAK-STAT signaling
Disease
H01605  Myelofibrosis
H01612  Essential thrombocythemia
Reference
  Authors
Guglielmelli P, Calabresi L
  Title
The MPL mutation.
  Journal
Int Rev Cell Mol Biol 365:163-178 (2021)
DOI:10.1016/bs.ircmb.2021.09.003
Reference
  Authors
Ding J, Komatsu H, Wakita A, Kato-Uranishi M, Ito M, Satoh A, Tsuboi K, Nitta M, Miyazaki H, Iida S, Ueda R
  Title
Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin.
  Journal
Blood 103:4198-200 (2004)
DOI:10.1182/blood-2003-10-3471
Reference
  Authors
Tefferi A
  Title
JAK and MPL mutations in myeloid malignancies.
  Journal
Leuk Lymphoma 49:388-97 (2008)
DOI:10.1080/10428190801895360
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