Varaico: Literature-Extracted Genetic Variants

Gene:UPK3B
Variant:p.L217insFs

UPK3B

215 papers

RefSeq Summary

UPK3B is a minor component of the apical plaques of mammalian urothelium that binds and dimerizes with uroplakin-1b (UPK1B; MIM 602380), one of the major conserved urothelium membrane proteins. The ot...

Gene Aliases

HGNC Name

uroplakin 3B

HGNC Alias Symbols

MGC10902; p35; UPIIIb; FLJ32198

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001347684.2
p.L217insFs
c.649_650insC
Surrounding Variants
1 paper
NM_001347684.2
p.T221N
c.662C>A
1 paper
NM_001347684.2
p.T221_M222insFs
c.663_664insTT
1 paper
NM_001347684.2
p.G210S
c.628G>A
1 paper
NM_001347684.2
p.A209T
c.625G>A
1 paper
NM_001347684.2
p.L205R
c.614T>G
1 paper
NM_001347684.2
p.I204_L212delins
c.612_635delinsAATTGAGTCTTAGAAAAGTTAAGC
1 paper
NM_001347684.2
p.S203S
c.609C>T
1 paper
NM_001347684.2
p.V200I
c.598G>A
1 paper
NM_001347684.2
p.S195T
c.584G>C
1 paper
NM_001347684.2
p.R194*
c.580C>T
1 paper
NM_001347684.2
p.P191L
c.572C>T
2 papers
NM_001347684.2
p.D188A
c.563A>C
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