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_001243133.2

p.L626fs

c.1876_1877fs

Surrounding Variants

1 paper

NM_004895.5

p.Q627R

c.1880A>G

1 paper

NM_004895.5

p.E629Q

c.1885G>C

23 papers

NM_001243133.2

p.E627G

c.1880A>G

NM_004895.5

p.E629G

c.1886A>G

2 papers

NM_001243133.2

p.S624R

c.1872C>A

2 papers

NM_001243133.2

p.S624R

c.1872C>G

3 papers

NM_004895.5

p.E629D

c.1887A>C

NM_001243133.2

p.E627D

c.1881A>C

3 papers

NM_004895.5

p.E629D

c.1887A>T

NM_001243133.2

p.E627D

c.1881A>T

2 papers

NM_001243133.2

p.S624R

c.1870A>C

2 papers

NM_001243133.2

p.I621delFs

c.1862delT

1 paper

NM_001243133.2

p.C631R

c.1891T>C

1 paper

NM_004895.5

p.C633W

c.1899T>G

1 paper

NM_001243133.2

p.Q620*

c.1858C>T