Varaico: Literature-Extracted Genetic Variants

Gene:PLG
Variant:p.R523W
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PLG

NM_000301.5:p.R523W

Associated Papers

Plasminogen mutation-associated thrombotic microangiopathy and role of anticoagulation: a single institution case series.

Agarwal S et al.

Research and Practice in Thrombosis and Haemostasis, 2025

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants

Plasminogen missense variants and their involvement in cardiovascular and inflammatory disease.

Brito-Robinson T et al.

Frontiers in Cardiovascular Medicine, 2024

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Biorxiv : the Preprint Server for Biology, 2023

37292598 (PubMed )
Supplement: media-1.xlsx › Variants

Identification of PCSK9-like human gene knockouts using metabolomics, proteomics, and whole-genome sequencing in a consanguineous population.

Belkadi A et al.

Cell Genomics, 2023

36777185 (PubMed )
Supplement: mmc5.xlsx › Table_S4

Molecular Genetic Screening in Patients With ACE Inhibitor/Angiotensin Receptor Blocker-Induced Angioedema to Explore the Role of Hereditary Angioedema Genes.

Mathey CM et al.

Frontiers in Genetics, 2022

Clinical characterization and identification of rare genetic variants in atypical hemolytic uremic syndrome: A Swedish retrospective observational study.

Åkesson A et al.

Therapeutic Apheresis and Dialysis : Official Peer-reviewed Journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy, 2021

Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.

Zhou Y et al.

Science Advances, 2021

34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S6.xlsx › Sheet1

Functional prediction and comparative population analysis of variants in genes for proteases and innate immunity related to SARS-CoV-2 infection.

Klaassen K et al.

Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2020

Plasminogen glycoforms alteration and activation susceptibility associated with the missense variant p.Lys330Glu in HAE-PLG patients.

Parsopoulou F et al.

Allergy, 2020

Complement-mediated thrombotic microangiopathy associated with lupus nephritis.

Park MH et al.

Blood Advances, 2018

On the pathogenicity of the plasminogen K330E mutation for hereditary angioedema.

Germenis AE et al.

Allergy, 2018

Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.

Osborne AJ et al.

Journal of Immunology (baltimore, Md. : 1950), 2018

MUG-Mel2, a novel highly pigmented and well characterized NRAS mutated human melanoma cell line.

Rinner B et al.

Scientific Reports, 2017

28522871 (PubMed )
Supplement: 41598_2017_2197_MOESM1_ESM.pdf

Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients.

Sadovnick AD et al.

G3 (bethesda, Md.), 2016

Genetic variants in PLG, LPA, and SIGLEC 14 as well as smoking contribute to plasma plasminogen levels.

Ma Q et al.

Blood, 2014

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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."