Varaico: Literature-Extracted Genetic Variants

NLRP8

97 papers

RefSeq Summary

This gene encodes a member of the nucleotide-binding oligomerization domain/ leucine rich repeat/ pyrin domain containing (NLRP) subfamily, which belongs to the Nod-like receptor family of proteins. N...

Pfam Domains

PYRINaa 40–115UCSCPAAD/DAPIN/Pyrin domain

NACHTaa 204–373UCSCNACHT domain

WHD_NOD2aa 449–505UCSCNOD2 winged helix domain

NLRC4_HD2aa 508–624UCSCNLRC4 helical domain HD2

LRR_6aa 865–887UCSCLeucine Rich repeat

Gene Aliases

HGNC Name

NLR family pyrin domain containing 8

HGNC Previous Symbol

NALP8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_176811.2

p.F243V

c.727T>G

Surrounding Variants

1 paper

NM_176811.2

p.C239C

c.717T>C

2 papers

NM_176811.2

p.R237C

c.709C>T

1 paper

NM_176811.2

p.H235R

c.704A>G

1 paper

NM_176811.2

p.T251M

c.752C>T

1 paper

NM_176811.2

p.E258D

c.774G>C

1 paper

NM_176811.2

p.E258D

c.774G>T

1 paper

NM_176811.2

p.E226Q

c.676G>C

1 paper

NM_176811.2

p.W264*

c.791G>A

1 paper

NM_176811.2

p.W264*

c.792G>A

1 paper

NM_176811.2

p.G266E

c.797G>A

1 paper

NM_176811.2

p.I218_A220delFs

c.653_660del8

1 paper

NM_176811.2

p.Q268R

c.803A>G