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.V352I

c.1054G>A

Surrounding Variants

1 paper

NM_176811.2

p.P355L

c.1064C>T

1 paper

NM_176811.2

p.P355P

c.1065G>T

2 papers

NM_176811.2

p.E361K

c.1081G>A

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

1 paper

NM_176811.2

p.E375V

c.1124A>T

1 paper

NM_176811.2

p.G376E

c.1127G>A

1 paper

NM_176811.2

p.L302M

c.904C>A

1 paper

NM_176811.2

p.E290*

c.868G>T

1 paper

NM_176811.2

p.G287D

c.860G>A

1 paper

NM_176811.2

p.T417A

c.1249A>G