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

12 papers

NM_001243133.2

p.M659K

c.1976T>A

Surrounding Variants

3 papers

NM_004895.5

p.M661R

c.1982T>G

NM_001243133.2

p.M659R

c.1976T>G

1 paper

NM_001243133.2

p.T657N

c.1970C>A

1 paper

NM_001243133.2

p.T657I

c.1970C>T

1 paper

NM_001243133.2

p.M662V

c.1984A>G

28 papers

NM_004895.5

p.M664T

c.1991T>C

NM_001243133.2

p.M662T

c.1985T>C

2 papers

NM_001243133.2

p.N654S

c.1961A>G

1 paper

NM_001243133.2

p.S665delFs

c.1993delT

1 paper

NM_001243133.2

p.N654D

c.1960A>G

1 paper

NM_001243133.2

p.I653T

c.1958T>C

1 paper

NM_001243133.2

p.F666V

c.1996T>G

1 paper

NM_001243133.2

p.I651T

c.1952T>C

1 paper

NM_001243133.2

p.P649R

c.1946C>G