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.I57M

c.171C>G

Surrounding Variants

1 paper

NM_004895.5

p.D60N

c.178G>A

NM_001243133.2

p.D58N

c.172G>A

1 paper

NM_001243133.2

p.I57S

c.170T>G

1 paper

NM_001243133.2

p.I57V

c.169A>G

NM_004895.5

p.I59V

c.175A>G

1 paper

NM_001243133.2

p.F59L

c.175T>C

1 paper

NM_001243133.2

p.F59delFs

c.177delC

1 paper

NM_004895.5

p.N62S

c.185A>G

NM_001243133.2

p.N60S

c.179A>G

1 paper

NM_001243133.2

p.G61W

c.181G>T

1 paper

NM_001243133.2

p.A53A

c.159C>T

1 paper

NM_001243133.2

p.E62Q

c.184G>C

1 paper

NM_001243133.2

p.E62*

c.184G>T

1 paper

NM_001243133.2

p.E62A

c.185A>C

5 papers

NM_001243133.2

p.A53T

c.157G>A