The NLRP3 gene homepage

General information
Gene symbol NLRP3
Gene name NLR family, pyrin domain containing 3
Chromosome 1
Chromosomal band q44
Imprinted Unknown
Genomic reference LRG_197
Transcript reference NM_001243133.1, NM_004895.4
Associated with diseases CINCA, DFNA34, FCAS1, KEFH, MWS
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 420
Unique public DNA variants reported 257
Individuals with public variants 439
Hidden variants 10
Date created May 03, 2013
Date last updated April 16, 2023
Version NLRP3:230416

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 16400
Entrez Gene 114548
PubMed articles NLRP3
OMIM - Gene 606416
OMIM - Diseases CINCA (CAPS3)
DFNA34 (Deafness, autosomal dominant 34, with or without inflammation)
FCAS1 (autoinflammatory syndrome, cold, familial, type 1 (FCAS-1))
KEFH (Keratoendothelitis fugax hereditaria)
MWS (Muckle-Wells syndrome (MWS))
Orphanet NLRP3

Active transcripts




NCBI ID     

NCBI Protein ID     

00014622 1 transcript variant 1 NM_004895.4 NP_004886.3 416
00025709 1 transcript variant 6 NM_001243133.1 NP_001230062.1 300

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