Varaico: Literature-Extracted Genetic Variants

Gene:PLAU
Variant:p.F45delFs

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.F45delFs
c.133_134delTT
Surrounding Variants
1 paper
NM_002658.6
p.K43R
c.128A>G
1 paper
NM_002658.6
p.N42S
c.125A>G
2 papers
NM_002658.6
p.N47N
c.141C>T
2 papers
NM_002658.6
p.S41Y
c.122C>A
1 paper
NM_002658.6
p.I48I
c.144T>A
1 paper
NM_002658.6
p.H49Q
c.147C>A
1 paper
NM_002658.6
p.H49Q
c.147C>G
1 paper
NM_002658.6
p.V40delFs
c.118delG
1 paper
NM_002658.6
p.C51F
c.152G>T
1 paper
NM_002658.6
p.C51C
c.153C>T
2 papers
NM_002658.6
p.N35K
c.105T>A
1 paper
NM_002658.6
p.P54S
c.160C>T
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