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.A65P

c.193G>C

Surrounding Variants

3 papers

NM_004895.5

p.A67G

c.200C>G

NM_001243133.2

p.A65G

c.194C>G

1 paper

NM_001243133.2

p.K64N

c.192G>C

1 paper

NM_001243133.2

p.K64N

c.192G>T

1 paper

NM_001243133.2

p.K64M

c.191A>T

1 paper

NM_001243133.2

p.W66G

c.196T>G

2 papers

NM_001243133.2

p.W66*

c.197G>A

1 paper

NM_001243133.2

p.E63K

c.187G>A

3 papers

NM_001243133.2

p.A67G

c.200C>G

1 paper

NM_001243133.2

p.A67V

c.200C>T

1 paper

NM_001243133.2

p.E62A

c.185A>C

1 paper

NM_001243133.2

p.M68V

c.202A>G

1 paper

NM_001243133.2

p.E62Q

c.184G>C