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.A392E

c.1175C>A

Surrounding Variants

1 paper

NM_001243133.2

p.A393G

c.1178C>G

1 paper

NM_001243133.2

p.R391_F394Fs

c.1172_1182delinsTGACTTAAAATTAATGFs

1 paper

NM_001243133.2

p.S395G

c.1183A>G

5 papers

NM_001243133.2

p.Q389P

c.1166A>C

1 paper

NM_001243133.2

p.L396V

c.1186C>G

1 paper

NM_004895.5

p.L398R

c.1193T>G

1 paper

NM_001243133.2

p.I397T

c.1190T>C

1 paper

NM_001243133.2

p.E387K

c.1159G>A

2 papers

NM_001243133.2

p.Q398*

c.1192C>T

1 paper

NM_001243133.2

p.D386E

c.1158T>A

1 paper

NM_001243133.2

p.D386E

c.1158T>G

4 papers

NM_001243133.2

p.D386N

c.1156G>A