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.Q507R

c.1520A>G

Surrounding Variants

1 paper

NM_001243133.2

p.Q507L

c.1520A>T

1 paper

NM_001243133.2

p.V510V

c.1530G>T

1 paper

NM_001243133.2

p.R502G

c.1504A>G

1 paper

NM_001243133.2

p.K514insFs

c.1541_1542insAC

1 paper

NM_001243133.2

p.F515L

c.1543T>C

1 paper

NM_001243133.2

p.F515L

c.1545C>A

1 paper

NM_001243133.2

p.F515L

c.1545C>G

1 paper

NM_001243133.2

p.Y516H

c.1546T>C

1 paper

NM_001243133.2

p.S498C

c.1493C>G

1 paper

NM_001243133.2

p.S517R

c.1549A>C

1 paper

NM_001243133.2

p.S517R

c.1551C>A

1 paper

NM_001243133.2

p.S517R

c.1551C>G