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.T28I

c.83C>T

Surrounding Variants

1 paper

NM_176811.2

p.P33L

c.98C>T

2 papers

NM_176811.2

p.P33P

c.99C>T

1 paper

NM_176811.2

p.T19S

c.55A>T

1 paper

NM_176811.2

p.S15delFs

c.44delC

1 paper

NM_176811.2

p.S15fs

c.43_44fs

1 paper

NM_176811.2

p.P13S

c.37C>T

1 paper

NM_176811.2

p.E51*

c.151G>T

1 paper

NM_176811.2

p.R55Q

c.164G>A

1 paper

NM_176811.2

p.F56V

c.166T>G

1 paper

NM_176811.2

p.E63K

c.187G>A

1 paper

NM_176811.2

p.E77*

c.229G>T

1 paper

NM_176811.2

p.R95*

c.283C>T