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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLAU

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

Trypsinaa 162–402UCSCTrypsin

Gene Aliases

HGNC Name

plasminogen activator, urokinase

HGNC Alias Symbols

URK; UPA

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 135 variants

10 papers

chr10:73913343 T>C

NM_002658.6

p.L141P

c.422T>C

Kringle

Exome: 75.1% (AC=1097234, hom=414378)Genome: 80.5% (AC=122449, hom=50108)31 overlapping SVs

7 papers

chr10:73911598 G>C

NM_002658.6

p.V15L

c.43G>C

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)31 overlapping SVs

7 papers

chr10:73911598 G>T

NM_002658.6

p.V15L

c.43G>T

Exome: 0.9% (AC=12712, hom=123)Genome: 0.8% (AC=1165, hom=16)31 overlapping SVs

5 papers

chr10:73915328 T>C

NM_002658.6

p.Y350H

c.1048T>C

Trypsin

Exome: 0.4% (AC=6479, hom=18)Genome: 0.4% (AC=566, hom=3)31 overlapping SVs

4 papers

chr10:73912986 A>G

NM_002658.6

p.T86A

c.256A>G

Kringle

Exome: 0.0% (AC=189, hom=0)Genome: 0.0% (AC=11, hom=0)31 overlapping SVs

3 papers

chr10:73912301 G>A

NM_002658.6

p.G58R

c.172G>A

Exome: 0.7% (AC=9586, hom=47)Genome: 0.5% (AC=742, hom=5)33 overlapping SVs

3 papers

chr10:73912301 G>C

NM_002658.6

p.G58R

c.172G>C

exact variant not in gnomAD33 overlapping SVs

3 papers

chr10:73913366 C>T

NM_002658.6

p.H149Y

c.445C>T

Kringle

Exome: 0.1% (AC=1685, hom=3)Genome: 0.1% (AC=106, hom=0)31 overlapping SVs

3 papers

chr10:73913990 A>C

NM_002658.6

p.K231Q

c.691A>C

Kringle Trypsin

Exome: 0.6% (AC=8928, hom=507)Genome: 4.5% (AC=6855, hom=503)31 overlapping SVs

3 papers

chr10:73916444 G>A

NM_002658.6

p.G392E

c.1175G>A

Trypsin

exact variant not in gnomAD32 overlapping SVs

2 papers

chr10:73912062 G>A

NM_002658.6

p.V27I

c.79G>A

exact variant not in gnomAD33 overlapping SVs

2 papers

chr10:73912234 T>A

NM_002658.6

p.N35K

c.105T>A

exact variant not in gnomAD33 overlapping SVs

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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."