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.N163H

c.487A>C

Surrounding Variants

1 paper

NM_001243133.2

p.N163S

c.488A>G

1 paper

NM_004895.5

p.N165I

c.494A>T

4 papers

NM_001243133.2

p.N163N

c.489C>T

3 papers

NM_001243133.2

p.S161I

c.482G>T

1 paper

NM_001243133.2

p.S159N

c.476G>A

1 paper

NM_001243133.2

p.S159I

c.476G>T

1 paper

NM_001243133.2

p.S159insFs

c.476dupG

1 paper

NM_004895.5

p.S161C

c.481A>T

2 papers

NM_001243133.2

p.E158E

c.474G>A

1 paper

NM_001243133.2

p.E158G

c.473A>G

1 paper

NM_001243133.2

p.R168*

c.502C>T

9 papers

NM_001243133.2

p.R168Q

c.503G>A