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.S293A

c.877T>G

Surrounding Variants

1 paper

NM_004895.5

p.P294P

c.882C>G

2 papers

NM_001243133.2

p.K291N

c.873A>T

1 paper

NM_001243133.2

p.R294K

c.881G>A

2 papers

NM_001243133.2

p.K291*

c.871A>T

1 paper

NM_001243133.2

p.V289V

c.867G>A

1 paper

NM_001243133.2

p.V289M

c.865G>A

3 papers

NM_001243133.2

p.I288M

c.864C>G

NM_004895.5

p.I290M

c.870C>G

8 papers

NM_001243133.2

p.M299V

c.895A>G

1 paper

NM_001243133.2

p.D300H

c.898G>C

1 paper

NM_001243133.2

p.D300V

c.899A>T

1 paper

NM_001243133.2

p.I285delFs

c.854_855delTC

7 papers

NM_001243133.2

p.G301S

c.901G>A

NM_004895.5

p.G303S

c.907G>A