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

3 papers

NM_001243133.2

p.P283L

c.848C>T

Surrounding Variants

1 paper

NM_001243133.2

p.P283A

c.847C>G

1 paper

NM_001243133.2

p.N282K

c.846C>A

1 paper

NM_001243133.2

p.N282K

c.846C>G

1 paper

NM_001243133.2

p.P284S

c.850C>T

1 paper

NM_001243133.2

p.N282T

c.845A>C

1 paper

NM_001243133.2

p.P284L

c.851C>T

1 paper

NM_001243133.2

p.P284_I285delFs

c.852_853delCA

1 paper

NM_001243133.2

p.I285delFs

c.854_855delTC

2 papers

NM_001243133.2

p.P281T

c.841C>A

1 paper

NM_001243133.2

p.P281A

c.841C>G

3 papers

NM_004895.5

p.D282N

c.844G>A

NM_001243133.2

p.D280N

c.838G>A

1 paper

NM_001243133.2

p.P279T

c.835C>A