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.N815S

c.2444A>G

Surrounding Variants

1 paper

NM_176811.2

p.W805C

c.2415G>C

1 paper

NM_176811.2

p.W805C

c.2415G>T

1 paper

NM_176811.2

p.Q840*

c.2518C>T

1 paper

NM_176811.2

p.N848I

c.2543A>T

1 paper

NM_176811.2

p.K867M

c.2600A>T

1 paper

NM_176811.2

p.H871Q

c.2613C>A

1 paper

NM_176811.2

p.H871Q

c.2613C>G

1 paper

NM_176811.2

p.N877K

c.2631C>A

1 paper

NM_176811.2

p.N877K

c.2631C>G

1 paper

NM_176811.2

p.H893Y

c.2677C>T

1 paper

NM_176811.2

p.R789H

c.2366G>A

1 paper

NM_176811.2

p.L778I

c.2332C>A