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.Y720C

c.2159A>G

Surrounding Variants

1 paper

NM_134444.5

p.P721Q

c.2162C>A

1 paper

NM_134444.5

p.R712W

c.2134A>T

3 papers

NM_134444.5

p.R708H

c.2123G>A

1 paper

NM_134444.5

p.S707fs

c.2119_2120fs

1 paper

NM_134444.5

p.S707_R708delFs

c.2119_2122del4

1 paper

NM_134444.5

p.L690R

c.2069T>G

1 paper

NM_134444.5

p.L686L

c.2058C>A

1 paper

NM_134444.5

p.S683C

c.2047A>T

1 paper

NM_134444.5

p.S678C

c.2033C>G

1 paper

NM_134444.5

p.V677I

c.2029G>A

1 paper

NM_134444.5

p.R668H

c.2003G>A

1 paper

NM_134444.5

p.S651R

c.1953C>A