Varaico: Literature-Extracted Genetic Variants

NLRP4

147 papers

RefSeq Summary

The protein encoded by this gene is a member of the nucleotide-binding and leucine-rich repeat receptor (NLR) family, and is predicted to contain an N-terminal pyrin effector domain (PYD), a centrally...

Pfam Domains

PYRINaa 10–86UCSCPAAD/DAPIN/Pyrin domain

NACHTaa 149–318UCSCNACHT domain

WHD_NOD2aa 394–450UCSCNOD2 winged helix domain

NLRC4_HD2aa 452–568UCSCNLRC4 helical domain HD2

LRR_6aa 749–766UCSCLeucine Rich repeat

LRR_6aa 805–828UCSCLeucine Rich repeat

Gene Aliases

HGNC Name

NLR family pyrin domain containing 4

HGNC Previous Symbol

NALP4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_134444.5

p.C190R

c.568T>C

Surrounding Variants

1 paper

NM_134444.5

p.T185T

c.555G>A

1 paper

NM_134444.5

p.T185R

c.554C>G

1 paper

NM_134444.5

p.R179L

c.536G>T

1 paper

NM_134444.5

p.S206F

c.617C>T

1 paper

NM_134444.5

p.P212L

c.635C>T

1 paper

NM_134444.5

p.T162T

c.486G>A

4 papers

NM_134444.5

p.T162M

c.485C>T

1 paper

NM_134444.5

p.V220A

c.659T>C

1 paper

NM_134444.5

p.V220V

c.660G>A

1 paper

NM_134444.5

p.P223L

c.668C>T

2 papers

NM_134444.5

p.V229I

c.685G>A

3 papers

NM_134444.5

p.A144T

c.430G>A