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

2 papers

NM_134444.5

p.E559K

c.1675G>A

Surrounding Variants

1 paper

NM_134444.5

p.E575*

c.1723G>T

1 paper

NM_134444.5

p.H532R

c.1595A>G

1 paper

NM_134444.5

p.Q525R

c.1574A>G

1 paper

NM_134444.5

p.L593F

c.1779A>C

1 paper

NM_134444.5

p.L593F

c.1779A>T

1 paper

NM_134444.5

p.G520V

c.1559G>T

1 paper

NM_134444.5

p.A517A

c.1551G>A

1 paper

NM_134444.5

p.R600K

c.1799G>A

1 paper

NM_134444.5

p.A517V

c.1550C>T

1 paper

NM_134444.5

p.K514N

c.1542A>C

1 paper

NM_134444.5

p.K514N

c.1542A>T

1 paper

NM_134444.5

p.S605fs

c.1813_1814fs