Varaico: Literature-Extracted Genetic Variants

Gene:TSPAN12
Variant:p.R50Splc

TSPAN12

152 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 10–247UCSCTetraspanin family

Gene Aliases

HGNC Name

tetraspanin 12

HGNC Previous Symbol

TM4SF12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_012338.4
p.R50Splc
c.149+3A>G
Surrounding Variants
1 paper
NM_012338.4
p.R50Splc
c.149+2T>C
2 papers
NM_012338.4
p.R50Splc
c.149+1G>A
2 papers
NM_012338.4
p.N40_T49del10
c.118_146del30
12 papers
NM_012338.4
p.T49M
c.146C>T
1 paper
NM_012338.4
p.L45*
c.134T>G
1 paper
NM_012338.4
p.L45L
c.133T>C
1 paper
NM_012338.4
p.L45I
c.133T>A
2 papers
NM_012338.4
p.V42A
c.125T>C
1 paper
NM_012338.4
p.N40D
c.118A>G
1 paper
NM_012338.4
p.D37E
c.111C>A
1 paper
NM_012338.4
p.R36K
c.107G>A
1 paper
NM_012338.4
p.A30_M35delFs
c.88_104del17
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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."