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.L185F

c.553C>T

Surrounding Variants

1 paper

NM_001243133.2

p.E184E

c.552G>A

1 paper

NM_001243133.2

p.E184D

c.552G>C

1 paper

NM_001243133.2

p.E184D

c.552G>T

1 paper

NM_001243133.2

p.E184V

c.551A>T

1 paper

NM_001243133.2

p.E184Q

c.550G>C

1 paper

NM_001243133.2

p.E184*

c.550G>T

1 paper

NM_001243133.2

p.L186Q

c.557T>A

1 paper

NM_001243133.2

p.Q183insFs

c.548_549insG

1 paper

NM_001243133.2

p.E182V

c.545A>T

1 paper

NM_001243133.2

p.E182Q

c.544G>C

2 papers

NM_001243133.2

p.I188T

c.563T>C

1 paper

NM_001243133.2

p.G189delFs

c.566delG