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

62 papers

NM_004895.5

p.E313K

c.937G>A

NM_001243133.2

p.E311K

c.931G>A

Surrounding Variants

2 papers

NM_001243133.2

p.D310D

c.930C>T

1 paper

NM_001243133.2

p.D310N

c.928G>A

13 papers

NM_001243133.2

p.H312P

c.935A>C

1 paper

NM_001243133.2

p.F309L

c.927T>A

1 paper

NM_001243133.2

p.F309L

c.927T>G

2 papers

NM_001243133.2

p.H312H

c.936C>T

2 papers

NM_001243133.2

p.F309Y

c.926T>A

27 papers

NM_004895.5

p.F311S

c.932T>C

NM_001243133.2

p.F309S

c.926T>C

1 paper

NM_001243133.2

p.I313L

c.937A>C

10 papers

NM_001243133.2

p.I313V

c.937A>G

1 paper

NM_001243133.2

p.I313L

c.937A>T

1 paper

NM_001243133.2

p.I313delFs

c.938delT