Varaico: Literature-Extracted Genetic Variants

Gene:UPK3A

UPK3A

50 papers

RefSeq Summary

This gene encodes a member of the uroplakin family, a group of transmembrane proteins that form complexes on the apical surface of the bladder epithelium. Mutations in this gene may be associated with...

Gene Aliases

HGNC Name

uroplakin 3A

HGNC Previous Symbol

UPK3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
4 papers
NM_006953.4
p.S87*
c.260C>A
4 papers
NM_006953.4
p.I119T
c.356T>C
3 papers
NM_006953.4
p.S76*
c.227C>A
3 papers
NM_006953.4
p.A154P
c.460G>C
3 papers
NM_006953.4
p.W182*
c.545G>A
3 papers
NM_006953.4
p.W182*
c.546G>A
2 papers
NM_006953.4
p.A18Splc
c.53-1G>A
2 papers
NM_006953.4
p.S76*
c.227C>G
2 papers
NM_006953.4
p.S87*
c.260C>G
2 papers
NM_006953.4
p.Q179K
c.535C>A
2 papers
NM_006953.4
p.L191Splc
c.571+1G>A
2 papers
NM_006953.4
p.V210I
c.628G>A
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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."