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.W92*

c.276G>A

Surrounding Variants

1 paper

NM_001243133.2

p.G93R

c.277G>C

3 papers

NM_001243133.2

p.G93A

c.278G>C

1 paper

NM_001243133.2

p.K91N

c.273G>C

1 paper

NM_001243133.2

p.K91N

c.273G>T

1 paper

NM_001243133.2

p.P90L

c.269C>T

2 papers

NM_001243133.2

p.P90S

c.268C>T

1 paper

NM_001243133.2

p.E89Q

c.265G>C

1 paper

NM_001243133.2

p.D88N

c.262G>A

2 papers

NM_001243133.2

p.D88Y

c.262G>T

1 paper

NM_001243133.2

p.R87K

c.260G>A

1 paper

NM_001243133.2

p.R87*

c.259A>T

1 paper

NM_001243133.2

p.K86R

c.257A>G