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.V220E

c.659T>A

Surrounding Variants

3 papers

NM_001243133.2

p.T219T

c.657C>T

1 paper

NM_001243133.2

p.V221M

c.661G>A

1 paper

NM_001243133.2

p.T219S

c.656C>G

1 paper

NM_001243133.2

p.V221A

c.662T>C

1 paper

NM_001243133.2

p.T219fs

c.655_656fs

1 paper

NM_001243133.2

p.Q223K

c.667C>A

1 paper

NM_001243133.2

p.Q223E

c.667C>G

1 paper

NM_004895.5

p.Q225P

c.674A>C

NM_001243133.2

p.Q223P

c.668A>C

1 paper

NM_001243133.2

p.Q223R

c.668A>G

1 paper

NM_001243133.2

p.V217M

c.649G>A

1 paper

NM_001243133.2

p.A225S

c.673G>T

2 papers

NM_001243133.2

p.E215G

c.644A>G