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

1–12 of 134 variants

4 papers

NM_134444.5

p.T162M

c.485C>T

3 papers

NM_134444.5

p.K48N

c.144A>T

3 papers

NM_134444.5

p.A144T

c.430G>A

3 papers

NM_134444.5

p.P430S

c.1288C>T

3 papers

NM_134444.5

p.R708H

c.2123G>A

2 papers

NM_134444.5

p.V229I

c.685G>A

2 papers

NM_134444.5

p.A278T

c.832G>A

2 papers

NM_134444.5

p.P390Q

c.1169C>A

2 papers

NM_134444.5

p.A431V

c.1292C>T

2 papers

NM_134444.5

p.E559K

c.1675G>A

2 papers

NM_134444.5

p.T754M

c.2261C>T

2 papers

NM_134444.5

p.R810C

c.2428C>T