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

3 papers

NM_176811.2

p.*1049Y

c.3147G>C

Surrounding Variants

1 paper

NM_176811.2

p.*1049Y

c.3147G>T

1 paper

NM_176811.2

p.S1044F

c.3131C>T

1 paper

NM_176811.2

p.L1043Q

c.3128T>A

1 paper

NM_176811.2

p.C1002G

c.3004T>G

1 paper

NM_176811.2

p.G997S

c.2989G>A

1 paper

NM_176811.2

p.R978C

c.2932C>T

1 paper

NM_176811.2

p.A972T

c.2914G>A

1 paper

NM_176811.2

p.F965F

c.2895C>T