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

33 papers

NM_004895.5

p.G571R

c.1711G>C

NM_001243133.2

p.G569R

c.1705G>C

Surrounding Variants

33 papers

NM_004895.5

p.G571R

c.1711G>A

NM_001243133.2

p.G569R

c.1705G>A

3 papers

NM_004895.5

p.G571E

c.1712G>A

NM_001243133.2

p.G569E

c.1706G>A

13 papers

NM_004895.5

p.K570N

c.1710G>C

NM_001243133.2

p.K568N

c.1704G>C

6 papers

NM_001243133.2

p.G569A

c.1706G>C

NM_004895.5

p.G571A

c.1712G>C

13 papers

NM_004895.5

p.K570N

c.1710G>T

NM_001243133.2

p.K568N

c.1704G>T

5 papers

NM_001243133.2

p.G569V

c.1706G>T

2 papers

NM_001243133.2

p.Y570N

c.1708T>A

3 papers

NM_001243133.2

p.Y570H

c.1708T>C

NM_004895.5

p.Y572H

c.1714T>C

44 papers

NM_004895.5

p.Y572C

c.1715A>G

NM_001243133.2

p.Y570C

c.1709A>G

5 papers

NM_001243133.2

p.Y570F

c.1709A>T

4 papers

NM_001243133.2

p.E567A

c.1700A>C

5 papers

NM_001243133.2

p.E567G

c.1700A>G

NM_004895.5

p.E569G

c.1706A>G