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.M406I

c.1218G>C

NM_004895.5

p.M408I

c.1224G>C

Surrounding Variants

12 papers

NM_001243133.2

p.M406I

c.1218G>A

NM_004895.5

p.M408I

c.1224G>A

12 papers

NM_001243133.2

p.M406I

c.1218G>T

NM_004895.5

p.M408I

c.1224G>T

3 papers

NM_001243133.2

p.M406T

c.1217T>C

10 papers

NM_001243133.2

p.M406V

c.1216A>G

11 papers

NM_001243133.2

p.T405P

c.1213A>C

4 papers

NM_001243133.2

p.F408S

c.1223T>C

NM_004895.5

p.F410S

c.1229T>C

3 papers

NM_001243133.2

p.V402V

c.1206C>G

1 paper

NM_004895.5

p.L413M

c.1237C>A

NM_001243133.2

p.L411M

c.1231C>A

2 papers

NM_004895.5

p.L413V

c.1237C>G

NM_001243133.2

p.L411V

c.1231C>G

4 papers

NM_001243133.2

p.L411L

c.1231C>T

1 paper

NM_004895.5

p.V404L

c.1210G>C

3 papers

NM_001243133.2

p.L411L

c.1233G>T