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

1–12 of 107 variants

3 papers

NM_176811.2

p.A486T

c.1456G>A

3 papers

NM_176811.2

p.I942M

c.2826C>G

3 papers

NM_176811.2

p.*1049Y

c.3147G>C

2 papers

NM_176811.2

p.P33P

c.99C>T

2 papers

NM_176811.2

p.V116L

c.346G>C

2 papers

NM_176811.2

p.V116L

c.346G>T

2 papers

NM_176811.2

p.R237C

c.709C>T

2 papers

NM_176811.2

p.F243V

c.727T>G

2 papers

NM_176811.2

p.M333I

c.999G>A

2 papers

NM_176811.2

p.M333I

c.999G>C

2 papers

NM_176811.2

p.M333I

c.999G>T

2 papers

NM_176811.2

p.E361K

c.1081G>A