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

5 papers

NM_001243133.2

p.A53T

c.157G>A

Surrounding Variants

1 paper

NM_001243133.2

p.A53A

c.159C>T

1 paper

NM_001243133.2

p.L52V

c.154C>G

1 paper

NM_001243133.2

p.D51E

c.153T>A

1 paper

NM_001243133.2

p.D51E

c.153T>G

1 paper

NM_001243133.2

p.D51A

c.152A>C

1 paper

NM_001243133.2

p.D51G

c.152A>G

1 paper

NM_001243133.2

p.D51V

c.152A>T

1 paper

NM_001243133.2

p.D51N

c.151G>A

1 paper

NM_001243133.2

p.D51Y

c.151G>T

1 paper

NM_004895.5

p.V52M

c.154G>A

4 papers

NM_001243133.2

p.H49R

c.146A>G

NM_004895.5

p.H51R

c.152A>G

1 paper

NM_001243133.2

p.I57V

c.169A>G

NM_004895.5

p.I59V

c.175A>G