KEGG   VARIANT: 91662v1
Entry
91662v1                      Variant                               
Name
NLRP12 mutation
Type
Gain of function
Gene
NLRP12  NLR family pyrin domain containing 12 [KO:K20865]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609648
Network
nt06521  NLR signaling
Disease
H02159  Familial cold autoinflammatory 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:35123508
  Authors
Wang HF
  Title
NLRP12-associated systemic autoinflammatory diseases in children.
  Journal
Pediatr Rheumatol Online J 20:9 (2022)
DOI:10.1186/s12969-022-00669-8
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