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

3 papers

NM_001243133.2

p.E150K

c.448G>A

Surrounding Variants

1 paper

NM_001243133.2

p.E150*

c.448G>T

1 paper

NM_001243133.2

p.I149T

c.446T>C

7 papers

NM_001243133.2

p.C148Y

c.443G>A

1 paper

NM_001243133.2

p.C148G

c.442T>G

1 paper

NM_001243133.2

p.R152K

c.455G>A

1 paper

NM_001243133.2

p.Q147*

c.439C>T

2 papers

NM_001243133.2

p.N153S

c.458A>G

12 papers

NM_001243133.2

p.F146I

c.436T>A

2 papers

NM_004895.5

p.R147S

c.441A>T

2 papers

NM_004895.5

p.R147*

c.439A>T

2 papers

NM_001243133.2

p.R155C

c.463C>T

1 paper

NM_001243133.2

p.S144N

c.431G>A