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

4 papers

NM_001243133.2

p.E378K

c.1132G>A

Surrounding Variants

1 paper

NM_004895.5

p.K379N

c.1137A>C

1 paper

NM_004895.5

p.K379N

c.1137A>T

2 papers

NM_001243133.2

p.K377E

c.1129A>G

7 papers

NM_001243133.2

p.K375E

c.1123A>G

1 paper

NM_001243133.2

p.K375*

c.1123A>T

7 papers

NM_001243133.2

p.A374D

c.1121C>A

1 paper

NM_001243133.2

p.A374V

c.1121C>T

1 paper

NM_001243133.2

p.S385P

c.1153T>C

1 paper

NM_001243133.2

p.S385A

c.1153T>G

1 paper

NM_001243133.2

p.S385Y

c.1154C>A

1 paper

NM_001243133.2

p.G370V

c.1109G>T

4 papers

NM_001243133.2

p.D386N

c.1156G>A