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

158 papers

NM_001243133.2

p.V198M

c.592G>A

NM_004895.5

p.V200M

c.598G>A

Surrounding Variants

1 paper

NM_001243133.2

p.P197L

c.590C>T

1 paper

NM_001243133.2

p.V198V

c.594G>T

2 papers

NM_001243133.2

p.P197S

c.589C>T

8 papers

NM_001243133.2

p.S196N

c.587G>A

NM_004895.5

p.S198N

c.593G>A

3 papers

NM_001243133.2

p.P200T

c.598C>A

2 papers

NM_001243133.2

p.P200S

c.598C>T

1 paper

NM_001243133.2

p.P200_S214insFs

c.600_640dup41

1 paper

NM_001243133.2

p.P200L

c.599C>T

1 paper

NM_001243133.2

p.E195K

c.583G>A

1 paper

NM_001243133.2

p.S196_E204del0

c.586_612del27

1 paper

NM_001243133.2

p.I201M

c.603T>G

1 paper

NM_001243133.2

p.K202Q

c.604A>C