Varaico: Literature-Extracted Genetic Variants

Gene:TSPAN1

TSPAN1

21 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 7–239UCSCTetraspanin family

Gene Aliases

HGNC Name

tetraspanin 1

HGNC Alias Symbols

TSPAN-1; NET-1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 24 variants
2 papers
NM_005727.4
p.M230I
c.690G>A
2 papers
NM_005727.4
p.M230I
c.690G>C
2 papers
NM_005727.4
p.M230I
c.690G>T
1 paper
NM_005727.4
p.C3insFs
c.9dupC
1 paper
NM_005727.4
p.K8N
c.24G>C
1 paper
NM_005727.4
p.K8N
c.24G>T
1 paper
NM_005727.4
p.A37T
c.109G>A
1 paper
NM_005727.4
p.S38F
c.113C>T
1 paper
NM_005727.4
p.S47A
c.139T>G
1 paper
NM_005727.4
p.S48F
c.143C>T
1 paper
NM_005727.4
p.V56M
c.166G>A
1 paper
NM_005727.4
p.V65_V66delFs
c.195_196delTG
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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."