Varaico: Literature-Extracted Genetic Variants

Gene:IGSF8
Variant:p.W480R

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.W480R
c.1438T>C
Surrounding Variants
1 paper
NM_052868.6
p.W480_V481insC
c.1438_1442ins3
1 paper
NM_052868.6
p.W480R
c.1438T>A
1 paper
NM_052868.6
p.P471insFs
c.1412dupC
1 paper
NM_052868.6
p.P471fs
c.1411_1412fs
1 paper
NM_052868.6
p.V492I
c.1474G>A
2 papers
NM_052868.6
p.N463I
c.1388A>T
1 paper
NM_052868.6
p.G449R
c.1345G>C
1 paper
NM_052868.6
p.G449R
c.1345G>A
1 paper
NM_052868.6
p.R511Q
c.1532G>A
1 paper
NM_052868.6
p.P516S
c.1546C>T
1 paper
NM_052868.6
p.E442E
c.1326G>A
1 paper
NM_052868.6
p.P536P
c.1608C>T
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