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NLRP3 - NLR family pyrin domain containing 3
- Synonym(s) : AGTAVPRL, AII, AVP, CLR1.1, Cryopyrin, FCAS, FCU, MWS, NALP3, nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3, PYPAF1
- Previous symbols and names : C1orf7, CIAS1, DFNA34, cold autoinflammatory syndrome 1, deafness, autosomal dominant 34
- Type : gene with protein product
- Chromosomal location : 1q44
- OMIM: 606416
- HGNC: 16400
- UniProtKB: Q96P20
- Genatlas: NLRP3
- GenCC: NLRP3
- Ensembl: ENSG00000162711
- IUPHAR-DB: 1770
- Reactome: Q96P20
- LOVD: NLRP3
Diseases list
- Disease-causing germline mutation(s) in CINCA syndrome
ORPHA:1451 
- Disease-causing germline mutation(s) in Keratoendotheliitis fugax hereditaria
ORPHA:647815 - Disease-causing germline mutation(s) in Muckle-Wells syndrome
ORPHA:575 - Disease-causing germline mutation(s) (gain of function) in Familial cold urticaria
ORPHA:47045
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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