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.R554L

c.1661G>T

Surrounding Variants

12 papers

NM_004895.5

p.R556*

c.1666C>T

NM_001243133.2

p.R554*

c.1660C>T

1 paper

NM_001243133.2

p.V556M

c.1666G>A

1 paper

NM_001243133.2

p.T557A

c.1669A>G

1 paper

NM_001243133.2

p.L551V

c.1651C>G

2 papers

NM_001243133.2

p.V558I

c.1672G>A

2 papers

NM_001243133.2

p.V558G

c.1673T>G

1 paper

NM_001243133.2

p.R548C

c.1642C>T

1 paper

NM_001243133.2

p.S547C

c.1639A>T

1 paper

NM_001243133.2

p.N562H

c.1684A>C

1 paper

NM_001243133.2

p.G546R

c.1636G>A

17 papers

NM_001243133.2

p.Y563N

c.1687T>A

NM_004895.5

p.Y565N

c.1693T>A

2 papers

NM_001243133.2

p.Y563H

c.1687T>C