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.N543K

c.1629C>G

Surrounding Variants

1 paper

NM_001243133.2

p.N543K

c.1629C>A

1 paper

NM_001243133.2

p.T542M

c.1625C>T

1 paper

NM_001243133.2

p.T542A

c.1624A>G

1 paper

NM_001243133.2

p.G546R

c.1636G>A

1 paper

NM_001243133.2

p.R541T

c.1622G>C

1 paper

NM_001243133.2

p.S547C

c.1639A>T

1 paper

NM_001243133.2

p.R548C

c.1642C>T

1 paper

NM_001243133.2

p.K538E

c.1612A>G

1 paper

NM_001243133.2

p.L551V

c.1651C>G

1 paper

NM_001243133.2

p.L534L

c.1600C>T

12 papers

NM_004895.5

p.R556*

c.1666C>T

NM_001243133.2

p.R554*

c.1660C>T

1 paper

NM_001243133.2

p.R554L

c.1661G>T