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

Selected Variant

1 paper

NM_001243133.2

p.G491_L492insFs

c.1473_1474insA

Surrounding Variants

1 paper

NM_001243133.2

p.N489K

c.1467T>A

1 paper

NM_001243133.2

p.N489K

c.1467T>G

1 paper

NM_001243133.2

p.N489_H490delins

c.1467_1468delinsAT

2 papers

NM_001243133.2

p.Q493R

c.1478A>G

1 paper

NM_001243133.2

p.R488S

c.1464G>C

41 papers

NM_004895.5

p.R490K

c.1469G>A

NM_001243133.2

p.R488K

c.1463G>A

1 paper

NM_001243133.2

p.R488W

c.1462A>T

1 paper

NM_001243133.2

p.L487L

c.1461C>T

4 papers

NM_001243133.2

p.A495V

c.1484C>T

1 paper

NM_001243133.2

p.D496N

c.1486G>A

1 paper

NM_004895.5

p.D498V

c.1493A>T

NM_001243133.2

p.D496V

c.1487A>T

1 paper

NM_001243133.2

p.D486N

c.1456G>A