Varaico: Literature-Extracted Genetic Variants

Gene:UPK2
Variant:p.A47S

UPK2

21 papers

RefSeq Summary

This gene encodes one of the proteins of the highly conserved urothelium-specific integral membrane proteins of the asymmetric unit membrane which forms urothelium apical plaques in mammals. The asymm...

Pfam Domains

Uroplakin_IIaa 6–184UCSCUroplakin II

Gene Aliases

HGNC Name

uroplakin 2

HGNC Alias Symbols

UP2; UPII; MGC138598

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006760.4
p.A47S
c.139G>T
Surrounding Variants
1 paper
NM_006760.4
p.A47fs
c.139_140fs
1 paper
NM_006760.4
p.V46insFs
c.136_137insT
1 paper
NM_006760.4
p.P50H
c.149C>A
2 papers
NM_006760.4
p.C51delFs
c.151delT
2 papers
NM_006760.4
p.C51fs
c.151_152fs
1 paper
NM_006760.4
p.S37F
c.110C>T
1 paper
NM_006760.4
p.S30S
c.90A>C
3 papers
NM_006760.4
p.G93D
c.278G>A
1 paper
NM_006760.4
p.G93V
c.278G>T
1 paper
NM_006760.4
p.G23R
c.67G>A
1 paper
NM_006760.4
p.L17L
c.51G>A
1 paper
NM_006760.4
p.L12F
c.36G>C
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