KEGG   VARIANT: 3570v1
Entry
3570v1                      Variant                                
Name
IL6R mutation
Type
Loss of function
Gene
IL6R  interleukin-6 receptor subunit alpha isoform 1 precursor [KO:K05055]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 147880
Network
nt06518  JAK-STAT signaling
Disease
H01968  Hyper-IgE syndrome
Reference
PMID:34419355
  Authors
Minegishi Y
  Title
Hyper-IgE syndrome, 2021 update.
  Journal
Allergol Int 70:407-414 (2021)
DOI:10.1016/j.alit.2021.07.007
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