KEGG   VARIANT: 23586v1
Entry
23586v1                      Variant                               
Name
RIGI mutation
Type
Gain of function
Gene
RIGI  RNA sensor RIG-I [KO:K12646]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609631
Network
nt06519  RLR signaling
Disease
H01571  Singleton-Merten syndrome
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
Reference
PMID:28722725
  Authors
Manthiram K, Zhou Q, Aksentijevich I, Kastner DL
  Title
The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation.
  Journal
Nat Immunol 18:832-842 (2017)
DOI:10.1038/ni.3777
LinkDB

DBGET integrated database retrieval system