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

114 papers

NM_004895.5

p.T350M

c.1049C>T

NM_001243133.2

p.T348M

c.1043C>T

Surrounding Variants

1 paper

NM_001243133.2

p.T348A

c.1042A>G

1 paper

NM_001243133.2

p.T348T

c.1044G>A

4 papers

NM_001243133.2

p.T347I

c.1040C>T

1 paper

NM_004895.5

p.P352insFs

c.1054dupC

1 paper

NM_004895.5

p.P352S

c.1054C>T

10 papers

NM_001243133.2

p.P350L

c.1049C>T

NM_004895.5

p.P352L

c.1055C>T

2 papers

NM_001243133.2

p.I346S

c.1037T>G

NM_004895.5

p.I348S

c.1043T>G

8 papers

NM_001243133.2

p.V351M

c.1051G>A

5 papers

NM_001243133.2

p.V351L

c.1051G>C

NM_004895.5

p.V353L

c.1057G>C

5 papers

NM_001243133.2

p.V351L

c.1051G>T

NM_004895.5

p.V353L

c.1057G>T

1 paper

NM_004895.5

p.V353A

c.1058T>C

9 papers

NM_004895.5

p.A354T

c.1060G>A

NM_001243133.2

p.A352T

c.1054G>A