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

75 papers

NM_004895.5

p.L355P

c.1064T>C

NM_001243133.2

p.L353P

c.1058T>C

Surrounding Variants

3 papers

NM_001243133.2

p.E354K

c.1060G>A

3 papers

NM_001243133.2

p.E354*

c.1060G>T

41 papers

NM_001243133.2

p.A352V

c.1055C>T

NM_004895.5

p.A354V

c.1061C>T

9 papers

NM_004895.5

p.A354T

c.1060G>A

NM_001243133.2

p.A352T

c.1054G>A

10 papers

NM_001243133.2

p.E354D

c.1062G>C

10 papers

NM_001243133.2

p.E354D

c.1062G>T

2 papers

NM_004895.5

p.A354S

c.1060G>T

NM_001243133.2

p.A352S

c.1054G>T

7 papers

NM_001243133.2

p.K355T

c.1064A>C

NM_004895.5

p.K357T

c.1070A>C

1 paper

NM_001243133.2

p.K355R

c.1064A>G

1 paper

NM_004895.5

p.V353A

c.1058T>C

10 papers

NM_001243133.2

p.K355N

c.1065A>C

NM_004895.5

p.K357N

c.1071A>C

11 papers

NM_001243133.2

p.K355N

c.1065A>T

NM_004895.5

p.K357N

c.1071A>T