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_004895.5

p.N402K

c.1206C>G

Surrounding Variants

1 paper

NM_001243133.2

p.E401K

c.1201G>A

1 paper

NM_001243133.2

p.E401*

c.1201G>T

1 paper

NM_001243133.2

p.N400Y

c.1198A>T

1 paper

NM_004895.5

p.V404L

c.1210G>C

3 papers

NM_001243133.2

p.V402V

c.1206C>G

2 papers

NM_001243133.2

p.Q398*

c.1192C>T

1 paper

NM_001243133.2

p.I397T

c.1190T>C

11 papers

NM_001243133.2

p.T405P

c.1213A>C

1 paper

NM_004895.5

p.L398R

c.1193T>G

1 paper

NM_001243133.2

p.L396V

c.1186C>G

10 papers

NM_001243133.2

p.M406V

c.1216A>G

1 paper

NM_001243133.2

p.S395G

c.1183A>G