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.A47G

c.140C>G

Surrounding Variants

1 paper

NM_001243133.2

p.A47T

c.139G>A

1 paper

NM_001243133.2

p.A47P

c.139G>C

1 paper

NM_001243133.2

p.A47S

c.139G>T

1 paper

NM_001243133.2

p.K46N

c.138G>T

2 papers

NM_001243133.2

p.D48A

c.143A>C

2 papers

NM_001243133.2

p.D48E

c.144C>A

1 paper

NM_001243133.2

p.D48E

c.144C>G

4 papers

NM_001243133.2

p.H49R

c.146A>G

NM_004895.5

p.H51R

c.152A>G

1 paper

NM_001243133.2

p.E45G

c.134A>G

1 paper

NM_001243133.2

p.E45K

c.133G>A

1 paper

NM_001243133.2

p.E45*

c.133G>T

1 paper

NM_004895.5

p.V52M

c.154G>A