Varaico: Literature-Extracted Genetic Variants

NLRP3

1,456 papers

RefSeq Summary

This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated sp...

Pfam Domains

PYRINaa 7–83UCSCPAAD/DAPIN/Pyrin domain

FISNAaa 138–208UCSCFish-specific NACHT associated domain

NACHTaa 218–387UCSCNACHT domain

WHD_NOD2aa 462–518UCSCNOD2 winged helix domain

NLRC4_HD2aa 520–643UCSCNLRC4 helical domain HD2

LRR_6aa 737–760UCSCLeucine Rich repeat

Gene Aliases

HGNC Name

NLR family pyrin domain containing 3

HGNC Previous Symbols

CIAS1; DFNA34

Papers

RefSeq ID

Protein change

DNA change

1–12 of 1307 variants

155 papers

NM_001243133.2

p.V198M

c.592G>A

125 papers

NM_001243133.2

p.Q703K

c.2107C>A

116 papers

NM_001243133.2

p.D303N

c.907G>A

108 papers

NM_001243133.2

p.T348M

c.1043C>T

70 papers

NM_001243133.2

p.L353P

c.1058T>C

70 papers

NM_001243133.2

p.A439V

c.1316C>T

61 papers

NM_001243133.2

p.E311K

c.931G>A

41 papers

NM_001243133.2

p.A352V

c.1055C>T

41 papers

NM_001243133.2

p.Y570C

c.1709A>G

38 papers

NM_001243133.2

p.R488K

c.1463G>A

29 papers

NM_001243133.2

p.E567K

c.1699G>A

28 papers

NM_001243133.2

p.G569R

c.1705G>A