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_001243133.2

p.V70L

c.208G>C

Surrounding Variants

12 papers

NM_004895.5

p.V72M

c.214G>A

NM_001243133.2

p.V70M

c.208G>A

1 paper

NM_001243133.2

p.V70L

c.208G>T

1 paper

NM_001243133.2

p.A69A

c.207C>T

1 paper

NM_001243133.2

p.V70E

c.209T>A

1 paper

NM_001243133.2

p.V70A

c.209T>C

1 paper

NM_001243133.2

p.W71R

c.211T>A

1 paper

NM_001243133.2

p.W71R

c.211T>C

1 paper

NM_001243133.2

p.I72_R78delFs

c.214_233del20

2 papers

NM_001243133.2

p.M68T

c.203T>C

NM_004895.5

p.M70T

c.209T>C

1 paper

NM_001243133.2

p.M68V

c.202A>G

1 paper

NM_004895.5

p.I74N

c.221T>A

NM_001243133.2

p.I72N

c.215T>A

3 papers

NM_001243133.2

p.A67G

c.200C>G