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.I334F

c.1000A>T

Surrounding Variants

10 papers

NM_001243133.2

p.I334V

c.1000A>G

1 paper

NM_001243133.2

p.I334T

c.1001T>C

1 paper

NM_001243133.2

p.S332N

c.995G>A

1 paper

NM_001243133.2

p.S332G

c.994A>G

1 paper

NM_001243133.2

p.K336E

c.1006A>G

1 paper

NM_001243133.2

p.K336R

c.1007A>G

13 papers

NM_004895.5

p.S333R

c.999C>A

NM_001243133.2

p.S331R

c.993C>A

13 papers

NM_004895.5

p.S333R

c.999C>G

NM_001243133.2

p.S331R

c.993C>G

1 paper

NM_001243133.2

p.S331N

c.992G>A

13 papers

NM_004895.5

p.S333R

c.997A>C

NM_001243133.2

p.S331R

c.991A>C

1 paper

NM_004895.5

p.S333G

c.997A>G

1 paper

NM_001243133.2

p.K337E

c.1009A>G