Varaico: Literature-Extracted Genetic Variants

Gene:BAG3
Variant:p.R309*
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BAG3

NM_004281.4:p.R309*

Associated Papers

Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure.

Mora-Ayestarán N et al.

European Heart Journal, 2025

40878535 (PubMed )
Supplement: ehaf605_supplementary_data.zip › S13._Variant_classification.xlsx › Variant_classification

Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe.

Fernández-Eulate G et al.

Brain : a Journal of Neurology, 2025

A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.

Austin R et al.

Genetics in Medicine Open, 2024

39669597 (PubMed )
Supplement: mmc2.xlsx › Supp_tab_6

The chaperone-assisted selective autophagy complex dynamics and dysfunctions.

Tedesco B et al.

Autophagy, 2023

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Heliö K et al.

Frontiers in Cardiovascular Medicine, 2023

37795486 (PubMed )
Supplement: Table1.xlsx › Sheet1

Genetics of BAG3: A Paradigm for Developing Precision Therapies for Dilated Cardiomyopathies.

Qu HQ et al.

Journal of the American Heart Association, 2022

Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis.

Seidel F et al.

Circulation. Genomic and Precision Medicine, 2021

UV-exposure, endogenous DNA damage, and DNA replication errors shape the spectra of genome changes in human skin.

Saini N et al.

Plos Genetics, 2021

33444353 (PubMed )
Supplement: pgen.1009302.s011.xlsx › S2b

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.

Sarparanta J et al.

International Journal of Molecular Sciences, 2020

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S12

BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot-Marie-Tooth disease.

Kim SJ et al.

Genes & Genomics, 2018

Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations.

Domínguez F et al.

Journal of the American College of Cardiology, 2018

Genetic Etiology for Alcohol-Induced Cardiac Toxicity.

Ware JS et al.

Journal of the American College of Cardiology, 2018

29773157 (PubMed )
Supplement: mmc2.xlsx › Final_VariantList_Rare_ACMonly

The Role of the Multifunctional BAG3 Protein in Cellular Protein Quality Control and in Disease.

Stürner E et al.

Frontiers in Molecular Neuroscience, 2017

Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.

Chami N et al.

The Canadian Journal of Cardiology, 2014

A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.

Villard E et al.

European Heart Journal, 2011

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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."