KEGG   VARIANT: 2057v1
Entry
2057v1                      Variant                                
Name
EPOR mutation
Type
Gain of function
Gene
EPOR  erythropoietin receptor precursor [KO:K05079]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 133171
Network
nt06518  JAK-STAT signaling
nt06535  Efferocytosis
Disease
H00236  Congenital polycythemia
Reference
PMID:9292543
  Authors
Kralovics R, Indrak K, Stopka T, Berman BW, Prchal JF, Prchal JT
  Title
Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias.
  Journal
Blood 90:2057-61 (1997)
DOI:10.1182/blood.V90.5.2057
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