KEGG   VARIANT: 340061v1
Entry
340061v1                      Variant                              
Name
STING1 mutation
Type
Gain of function
Gene
STING1  stimulator of interferon response cGAMP interactor 1 [KO:K12654]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 612374
Network
nt06520  CGAS-STING signaling
Disease
H01746  STING-associated vasculopathy with onset in infancy
Reference
PMID:34635190
  Authors
Masumoto J, Zhou W, Morikawa S, Hosokawa S, Taguchi H, Yamamoto T, Kurata M, Kaneko N
  Title
Molecular biology of autoinflammatory diseases.
  Journal
Inflamm Regen 41:33 (2021)
DOI:10.1186/s41232-021-00181-8
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