Varaico: Literature-Extracted Genetic Variants

Gene:TSPAN8
Variant:p.A217V

TSPAN8

48 papers

RefSeq Summary

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the pre...

Pfam Domains

Tetraspaninaa 8–233UCSCTetraspanin family

Gene Aliases

HGNC Name

tetraspanin 8

HGNC Previous Symbol

TM4SF3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004616.3
p.A217V
c.650C>T
Surrounding Variants
5 papers
NM_004616.3
p.S213A
c.637T>G
1 paper
NM_004616.3
p.I210T
c.629T>C
1 paper
NM_004616.3
p.V209F
c.625G>T
1 paper
NM_004616.3
p.S196P
c.586T>C
1 paper
NM_004616.3
p.E192V
c.575A>T
1 paper
NM_004616.3
p.E192*
c.574G>T
1 paper
NM_004616.3
p.G186R
c.556G>C
1 paper
NM_004616.3
p.G186R
c.556G>A
1 paper
NM_004616.3
p.Y168H
c.502T>C
1 paper
NM_004616.3
p.N164_F165delins
c.492_493delinsCT
1 paper
NM_004616.3
p.L222R
c.665T>G
1 paper
NM_004616.3
p.Q233H
c.699G>T
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