Varaico: Literature-Extracted Genetic Variants

Gene:PLAU
Variant:p.D126V

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.D126V
c.377A>T
Surrounding Variants
2 papers
NM_002658.6
p.D126N
c.376G>A
1 paper
NM_002658.6
p.P125T
c.373C>A
1 paper
NM_002658.6
p.R128G
c.382C>G
1 paper
NM_002658.6
p.R128W
c.382C>T
1 paper
NM_002658.6
p.N124Y
c.370A>T
1 paper
NM_002658.6
p.R130*
c.388C>T
1 paper
NM_002658.6
p.C133_Y134del2
c.397_401del6
10 papers
NM_002658.6
p.L141P
c.422T>C
3 papers
NM_002658.6
p.H149Y
c.445C>T
2 papers
NM_002658.6
p.C151F
c.452G>T
1 paper
NM_002658.6
p.D153V
c.458A>T
1 paper
NM_002658.6
p.C122*
c.366C>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."