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.E54*

c.160G>T

Surrounding Variants

1 paper

NM_134444.5

p.A56V

c.167C>T

1 paper

NM_134444.5

p.A56A

c.168A>G

3 papers

NM_134444.5

p.K48N

c.144A>T

1 paper

NM_134444.5

p.K48R

c.143A>G

1 paper

NM_134444.5

p.P43L

c.128C>T

1 paper

NM_134444.5

p.E38*

c.112G>T

1 paper

NM_134444.5

p.Q32P

c.95A>C

1 paper

NM_134444.5

p.D80N

c.238G>A

1 paper

NM_134444.5

p.D80Y

c.238G>T

1 paper

NM_134444.5

p.F23L

c.69C>A

1 paper

NM_134444.5

p.F23L

c.69C>G

1 paper

NM_134444.5

p.F23L

c.67T>C