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.P256P

c.768G>A

Surrounding Variants

1 paper

NM_134444.5

p.E253_K254delFs

c.759_762del4

1 paper

NM_134444.5

p.D246N

c.736G>A

1 paper

NM_134444.5

p.S245L

c.734C>T

1 paper

NM_134444.5

p.L276L

c.828C>T

2 papers

NM_134444.5

p.A278T

c.832G>A

2 papers

NM_134444.5

p.V229I

c.685G>A

1 paper

NM_134444.5

p.R288W

c.862C>T

1 paper

NM_134444.5

p.P223L

c.668C>T

1 paper

NM_134444.5

p.V220V

c.660G>A

1 paper

NM_134444.5

p.V220A

c.659T>C

1 paper

NM_134444.5

p.P212L

c.635C>T

1 paper

NM_134444.5

p.G301E

c.902G>A