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.I257N

c.770T>A

Surrounding Variants

1 paper

NM_001243133.2

p.I257F

c.769A>T

1 paper

NM_004895.5

p.H260Y

c.778C>T

1 paper

NM_001243133.2

p.Y256_I257delFs

c.766_769del4

10 papers

NM_001243133.2

p.C259W

c.777T>G

NM_004895.5

p.C261W

c.783T>G

1 paper

NM_004895.5

p.F257fs

c.769_770fs

NM_001243133.2

p.F255fs

c.763_764fs

18 papers

NM_004895.5

p.R262*

c.784C>T

NM_001243133.2

p.R260*

c.778C>T

1 paper

NM_001243133.2

p.R260delins

c.778_780delinsTGG

3 papers

NM_001243133.2

p.R260Q

c.779G>A

22 papers

NM_001243133.2

p.R260P

c.779G>C

NM_004895.5

p.R262P

c.785G>C

14 papers

NM_004895.5

p.R262L

c.785G>T

NM_001243133.2

p.R260L

c.779G>T

1 paper

NM_001243133.2

p.L254Q

c.761T>A

1 paper

NM_001243133.2

p.E261insFs

c.781_782ins5