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.L534L

c.1600C>T

Surrounding Variants

1 paper

NM_001243133.2

p.M530V

c.1588A>G

1 paper

NM_001243133.2

p.K538E

c.1612A>G

1 paper

NM_004895.5

p.M532fs

c.1594_1595fs

1 paper

NM_001243133.2

p.A529T

c.1585G>A

1 paper

NM_001243133.2

p.A528P

c.1582G>C

1 paper

NM_001243133.2

p.R541T

c.1622G>C

1 paper

NM_001243133.2

p.T542A

c.1624A>G

1 paper

NM_001243133.2

p.F526I

c.1576T>A

1 paper

NM_001243133.2

p.T542M

c.1625C>T

3 papers

NM_004895.5

p.E527V

c.1580A>T

NM_001243133.2

p.E525V

c.1574A>T

18 papers

NM_001243133.2

p.E525K

c.1573G>A

NM_004895.5

p.E527K

c.1579G>A

1 paper

NM_001243133.2

p.N543K

c.1629C>A