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

135 papers

NM_001243133.2

p.Q703K

c.2107C>A

NM_004895.5

p.Q705K

c.2113C>A

Surrounding Variants

1 paper

NM_001243133.2

p.Q703*

c.2107C>T

1 paper

NM_001243133.2

p.Q703R

c.2108A>G

1 paper

NM_001243133.2

p.Q703H

c.2109G>C

1 paper

NM_001243133.2

p.Q703H

c.2109G>T

5 papers

NM_001243133.2

p.M701T

c.2102T>C

1 paper

NM_001243133.2

p.D700N

c.2098G>A

2 papers

NM_001243133.2

p.L699F

c.2095C>T

2 papers

NM_001243133.2

p.P707Q

c.2120C>A

2 papers

NM_004895.5

p.S710C

c.2128A>T

1 paper

NM_001243133.2

p.S708S

c.2124C>T

1 paper

NM_001243133.2

p.R697Q

c.2090G>A

1 paper

NM_004895.5

p.R699*

c.2095C>T

NM_001243133.2

p.R697*

c.2089C>T