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_004895.5

p.E695G

c.2084A>G

Surrounding Variants

1 paper

NM_001243133.2

p.E693*

c.2077G>T

4 papers

NM_001243133.2

p.K694E

c.2080A>G

1 paper

NM_001243133.2

p.E693del1

c.2077_2078delGAA

4 papers

NM_001243133.2

p.E692K

c.2074G>A

2 papers

NM_001243133.2

p.K694K

c.2082G>A

1 paper

NM_001243133.2

p.E692Q

c.2074G>C

1 paper

NM_001243133.2

p.K694N

c.2082G>C

1 paper

NM_001243133.2

p.E692*

c.2074G>T

1 paper

NM_001243133.2

p.K694N

c.2082G>T

2 papers

NM_001243133.2

p.E695G

c.2084A>G

2 papers

NM_001243133.2

p.E691K

c.2071G>A

1 paper

NM_001243133.2

p.G696D

c.2087G>A