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.D210V

c.629A>T

Surrounding Variants

1 paper

NM_001243133.2

p.D210N

c.628G>A

1 paper

NM_001243133.2

p.D210Y

c.628G>T

5 papers

NM_001243133.2

p.D211N

c.631G>A

1 paper

NM_001243133.2

p.D211G

c.632A>G

1 paper

NM_001243133.2

p.P209S

c.625C>T

1 paper

NM_001243133.2

p.D208E

c.624C>A

1 paper

NM_001243133.2

p.D208E

c.624C>G

1 paper

NM_001243133.2

p.E212K

c.634G>A

1 paper

NM_001243133.2

p.H213_S214insFs

c.638_641dup4

1 paper

NM_001243133.2

p.F207L

c.621T>A

1 paper

NM_001243133.2

p.F207L

c.621T>G

3 papers

NM_001243133.2

p.H213R

c.638A>G