Varaico: Literature-Extracted Genetic Variants

Gene:CD53
Variant:p.E77A

CD53

34 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 9–209UCSCTetraspanin family

Gene Aliases

HGNC Name

CD53 molecule

HGNC Previous Symbol

MOX44

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000560.4
p.E77A
c.230A>C
Surrounding Variants
1 paper
NM_000560.4
p.E77K
c.229G>A
1 paper
NM_000560.4
p.M72V
c.214A>G
1 paper
NM_000560.4
p.A67_F68delFs
c.199_202del4
1 paper
NM_000560.4
p.I63I
c.189C>A
1 paper
NM_000560.4
p.I62T
c.185T>C
1 paper
NM_000560.4
p.S61C
c.182C>G
1 paper
NM_000560.4
p.T51R
c.152C>G
1 paper
NM_000560.4
p.T51M
c.152C>T
1 paper
NM_000560.4
p.L43P
c.128T>C
1 paper
NM_000560.4
p.G31W
c.91G>T
1 paper
NM_000560.4
p.G24A
c.71G>C
1 paper
NM_000560.4
p.W21_I22Splc
c.64-745C>G
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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."