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

24 papers

NM_004895.5

p.L266F

c.796C>T

NM_001243133.2

p.L264F

c.790C>T

Surrounding Variants

6 papers

NM_001243133.2

p.L264V

c.790C>G

1 paper

NM_001243133.2

p.L264fs

c.790_791fs

15 papers

NM_001243133.2

p.L264H

c.791T>A

NM_004895.5

p.L266H

c.797T>A

2 papers

NM_001243133.2

p.L264P

c.791T>C

6 papers

NM_001243133.2

p.L264R

c.791T>G

1 paper

NM_001243133.2

p.V265M

c.793G>A

1 paper

NM_004895.5

p.V264E

c.791T>A

11 papers

NM_001243133.2

p.V262A

c.785T>C

NM_004895.5

p.V264A

c.791T>C

13 papers

NM_001243133.2

p.V262G

c.785T>G

NM_004895.5

p.V264G

c.791T>G

1 paper

NM_001243133.2

p.V262Fs

c.786delinsTGGFs

3 papers

NM_001243133.2

p.T266P

c.796A>C

1 paper

NM_001243133.2

p.T266A

c.796A>G