Varaico: Literature-Extracted Genetic Variants

Gene:PLAU
Variant:p.V219A

PLAU

227 papers

RefSeq Summary

This gene encodes a secreted serine protease that converts plasminogen to plasmin. The encoded preproprotein is proteolytically processed to generate A and B polypeptide chains. These chains associate...

Pfam Domains

Kringleaa 70–151UCSCKringle domain
Kringleaa 70–151UCSCKringle domain
Trypsinaa 162–402UCSCTrypsin

Gene Aliases

HGNC Name

plasminogen activator, urokinase

HGNC Alias Symbols

URK; UPA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002658.6
p.V219A
c.656T>C
Surrounding Variants
1 paper
NM_002658.6
p.I220N
c.659T>A
1 paper
NM_002658.6
p.A222T
c.664G>A
1 paper
NM_002658.6
p.H224Q
c.672C>A
1 paper
NM_002658.6
p.H224Q
c.672C>G
1 paper
NM_002658.6
p.C225S
c.673T>A
1 paper
NM_002658.6
p.C225S
c.674G>C
2 papers
NM_002658.6
p.C225_F226Fs
c.675_676delinsGFs
1 paper
NM_002658.6
p.S204fs
c.610_611fs
1 paper
NM_002658.6
p.R201L
c.602G>T
1 paper
NM_002658.6
p.G203insFs
c.608dupG
1 paper
NM_002658.6
p.R201fs
c.601_602fs
1 paper
NM_002658.6
p.H200P
c.599A>C
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