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_004895.5

p.Y443C

c.1328A>G

NM_001243133.2

p.Y441C

c.1322A>G

Surrounding Variants

1 paper

NM_001243133.2

p.Y441Y

c.1323C>T

6 papers

NM_001243133.2

p.Y441H

c.1321T>C

3 papers

NM_001243133.2

p.V442I

c.1324G>A

1 paper

NM_001243133.2

p.V440fs

c.1318_1319fs

10 papers

NM_004895.5

p.F445L

c.1333T>C

NM_001243133.2

p.F443L

c.1327T>C

74 papers

NM_004895.5

p.A441V

c.1322C>T

NM_001243133.2

p.A439V

c.1316C>T

10 papers

NM_004895.5

p.F445L

c.1335C>A

NM_001243133.2

p.F443L

c.1329C>A

10 papers

NM_004895.5

p.F445L

c.1335C>G

NM_001243133.2

p.F443L

c.1329C>G

1 paper

NM_001243133.2

p.F443F

c.1329C>T

24 papers

NM_001243133.2

p.A439T

c.1315G>A

NM_004895.5

p.A441T

c.1321G>A

12 papers

NM_004895.5

p.A441P

c.1321G>C

NM_001243133.2

p.A439P

c.1315G>C

2 papers

NM_001243133.2

p.F444I

c.1330T>A