Varaico: Literature-Extracted Genetic Variants

Gene:IGSF8

IGSF8

68 papers

RefSeq Summary

This gene encodes a member the EWI subfamily of the immunoglobulin protein superfamily. Members of this family contain a single transmembrane domain, an EWI (Glu-Trp-Ile)-motif and a variable number o...

Pfam Domains

V-setaa 32–149UCSCImmunoglobulin V-set domain
Ig_IgSF3aa 437–605UCSCIgSF3-like, immunoglobulin-like domain

Gene Aliases

HGNC Name

immunoglobulin superfamily member 8

HGNC Alias Symbols

CD81P3; EWI2; PGRL; CD316

Papers
RefSeq ID
Protein change
DNA change
1–12 of 74 variants
2 papers
NM_052868.6
p.L137R
c.410T>G
2 papers
NM_052868.6
p.R165H
c.494G>A
2 papers
NM_052868.6
p.T175M
c.524C>T
2 papers
NM_052868.6
p.N463I
c.1388A>T
1 paper
NM_052868.6
p.A44T
c.130G>A
1 paper
NM_052868.6
p.V45V
c.135C>A
1 paper
NM_052868.6
p.S46F
c.137C>T
1 paper
NM_052868.6
p.S46C
c.137C>G
1 paper
NM_052868.6
p.Q59L
c.176A>T
1 paper
NM_052868.6
p.E63K
c.187G>A
1 paper
NM_052868.6
p.R68K
c.203G>A
1 paper
NM_052868.6
p.Q101*
c.301C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."