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.R41R

c.121A>C

Surrounding Variants

1 paper

NM_001243133.2

p.R41G

c.121A>G

1 paper

NM_001243133.2

p.R41W

c.121A>T

1 paper

NM_001243133.2

p.R41K

c.122G>A

1 paper

NM_004895.5

p.R43T

c.128G>C

1 paper

NM_001243133.2

p.P40R

c.119C>G

1 paper

NM_001243133.2

p.P40A

c.118C>G

2 papers

NM_001243133.2

p.P40S

c.118C>T

1 paper

NM_001243133.2

p.G42D

c.125G>A

1 paper

NM_001243133.2

p.L39P

c.116T>C

1 paper

NM_001243133.2

p.G42_Q43insFs

c.126_127insAA

5 papers

NM_001243133.2

p.L39F

c.115C>T

2 papers

NM_004895.5

p.Q45*

c.133C>T

NM_001243133.2

p.Q43*

c.127C>T