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1 protein found in SwissVar (33 variants)

with gene/protein name Q96P20

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
Q96P20 NLRP3_HUMAN familial cold autoinflammatory syndrome 1 p.Val200Met
p.Arg262Trp
p.Leu307Pro
p.Leu355Pro
p.Ala441Val
p.Arg490Lys
p.Phe525Cys
p.Glu629Gly








Q96P20 NLRP3_HUMAN muckle-wells syndrome p.Val200Met
p.Arg262Trp
p.Asp305Asn
p.Leu307Pro
p.Thr350Met
p.Ala354Val
p.Ala441Thr
p.Gly571Arg








Q96P20 NLRP3_HUMAN chronic infantile neurologic cutaneous and articular syndrome p.Ile174Thr
p.Arg262Pro
p.Arg262Leu
p.Leu266His
p.Asp305Asn
p.Asp305Gly
p.Gln308Lys
p.Phe311Ser
p.Thr350Met
p.Glu356Asp
p.His360Arg
p.Thr407Pro
p.Thr438Ile
p.Thr438Asn
p.Phe525Leu
p.Tyr572Cys
p.Phe575Ser
p.Leu634Phe
p.Met664Thr
p.Tyr861Cys




















Q96P20 NLRP3_HUMAN keratoendothelitis fugax hereditaria p.Asp21His

Q96P20 NLRP3_HUMAN deafness, autosomal dominant 34, with or without inflammation p.Arg920Gln