Varaico: Literature-Extracted Genetic Variants

Gene:IGSF8
Variant:p.L137R

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
2 papers
NM_052868.6
p.L137R
c.410T>G
Surrounding Variants
1 paper
NM_052868.6
p.R135H
c.404G>A
1 paper
NM_052868.6
p.S141S
c.423C>T
1 paper
NM_052868.6
p.G142S
c.424G>A
1 paper
NM_052868.6
p.Y125C
c.374A>G
1 paper
NM_052868.6
p.Q101*
c.301C>T
1 paper
NM_052868.6
p.R68K
c.203G>A
1 paper
NM_052868.6
p.E63K
c.187G>A
1 paper
NM_052868.6
p.Q59L
c.176A>T
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.V45V
c.135C>A
1 paper
NM_052868.6
p.A44T
c.130G>A
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