Varaico: Literature-Extracted Genetic Variants

Gene:UPK1A

UPK1A

27 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 16–258UCSCTetraspanin family

Gene Aliases

HGNC Name

uroplakin 1A

HGNC Alias Symbol

TSPAN21

Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
3 papers
NM_007000.4
p.S33A
c.97T>G
3 papers
NM_007000.4
p.M257T
c.770T>C
2 papers
NM_007000.4
p.R88C
c.262C>T
1 paper
NM_007000.4
p.M1_A6insFs
c.1_16dup16
1 paper
NM_007000.4
p.E8Fs
c.23delinsATFs
1 paper
NM_007000.4
p.A9insFs
c.26_27insG
1 paper
NM_007000.4
p.A9V
c.26C>T
1 paper
NM_007000.4
p.V16A
c.47T>C
1 paper
NM_007000.4
p.I26_I27insG
c.76_80ins3
1 paper
NM_007000.4
p.S33S
c.99C>T
1 paper
NM_007000.4
p.A78D
c.233C>A
1 paper
NM_007000.4
p.R152P
c.455G>C
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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."