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

2 papers

NM_004895.5

p.F568Y

c.1703T>A

Surrounding Variants

17 papers

NM_001243133.2

p.F566L

c.1698C>A

NM_004895.5

p.F568L

c.1704C>A

17 papers

NM_001243133.2

p.F566L

c.1698C>G

NM_004895.5

p.F568L

c.1704C>G

1 paper

NM_004895.5

p.F568I

c.1702T>A

17 papers

NM_001243133.2

p.F566L

c.1696T>C

NM_004895.5

p.F568L

c.1702T>C

32 papers

NM_001243133.2

p.E567K

c.1699G>A

NM_004895.5

p.E569K

c.1705G>A

7 papers

NM_001243133.2

p.E567Q

c.1699G>C

NM_004895.5

p.E569Q

c.1705G>C

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

2 papers

NM_001243133.2

p.K565R

c.1694A>G

3 papers

NM_004895.5

p.K567E

c.1699A>G

NM_001243133.2

p.K565E

c.1693A>G

6 papers

NM_001243133.2

p.G564D

c.1691G>A

5 papers

NM_001243133.2

p.G564S

c.1690G>A