Varaico: Literature-Extracted Genetic Variants

Gene:IGSF8
Variant:p.S386Y

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
Selected Variant
1 paper
NM_052868.6
p.S386Y
c.1157C>A
Surrounding Variants
1 paper
NM_052868.6
p.R405C
c.1213C>T
1 paper
NM_052868.6
p.V367L
c.1099G>T
1 paper
NM_052868.6
p.V367L
c.1099G>C
1 paper
NM_052868.6
p.A352T
c.1054G>A
1 paper
NM_052868.6
p.E421D
c.1263A>T
1 paper
NM_052868.6
p.E421D
c.1263A>C
1 paper
NM_052868.6
p.P349S
c.1045C>T
1 paper
NM_052868.6
p.H433H
c.1299T>C
1 paper
NM_052868.6
p.R315Q
c.944G>A
1 paper
NM_052868.6
p.R314L
c.941G>T
1 paper
NM_052868.6
p.A306T
c.916G>A
1 paper
NM_052868.6
p.E442E
c.1326G>A
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