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.C420R

c.1258T>C

Surrounding Variants

1 paper

NM_176811.2

p.S419S

c.1257A>G

1 paper

NM_176811.2

p.S419L

c.1256C>T

1 paper

NM_176811.2

p.T417A

c.1249A>G

1 paper

NM_176811.2

p.S425C

c.1274C>G

1 paper

NM_176811.2

p.F427F

c.1281C>T

2 papers

NM_176811.2

p.V428I

c.1282G>A

1 paper

NM_176811.2

p.R429Q

c.1286G>A

1 paper

NM_176811.2

p.Y430C

c.1289A>G

1 paper

NM_176811.2

p.A459T

c.1375G>A

1 paper

NM_176811.2

p.G376E

c.1127G>A

1 paper

NM_176811.2

p.E375V

c.1124A>T

2 papers

NM_176811.2

p.E361K

c.1081G>A