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

1 paper

NM_176811.2

p.P730L

c.2189C>T

Surrounding Variants

1 paper

NM_176811.2

p.P718H

c.2153C>A

1 paper

NM_176811.2

p.R690R

c.2070T>C

2 papers

NM_176811.2

p.R690C

c.2068C>T

1 paper

NM_176811.2

p.K774K

c.2322A>G

1 paper

NM_176811.2

p.A775T

c.2323G>A

1 paper

NM_176811.2

p.L778I

c.2332C>A

1 paper

NM_176811.2

p.R789H

c.2366G>A

2 papers

NM_176811.2

p.R651W

c.1951C>T

1 paper

NM_176811.2

p.E619E

c.1857A>G

1 paper

NM_176811.2

p.E615K

c.1843G>A

1 paper

NM_176811.2

p.H614P

c.1841A>C

1 paper

NM_176811.2

p.P602L

c.1805C>T