Varaico: Literature-Extracted Genetic Variants

Gene:PLAU
Variant:p.S353A

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.S353A
c.1057T>G
Surrounding Variants
2 papers
NM_002658.6
p.V355F
c.1063G>T
5 papers
NM_002658.6
p.Y350H
c.1048T>C
1 paper
NM_002658.6
p.A363A
c.1089T>A
1 paper
NM_002658.6
p.Y328H
c.982T>C
1 paper
NM_002658.6
p.T324Splc
c.970+1G>A
1 paper
NM_002658.6
p.S323_T324ins10
c.967_971ins30
1 paper
NM_002658.6
p.F318Y
c.953T>A
1 paper
NM_002658.6
p.F309S
c.926T>C
1 paper
NM_002658.6
p.P301L
c.902C>T
1 paper
NM_002658.6
p.P301S
c.901C>T
1 paper
NM_002658.6
p.I298_M303ins2
c.892_909dup18
1 paper
NM_002658.6
p.R293Q
c.878G>A
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