Varaico: Literature-Extracted Genetic Variants

Gene:BAG3
Variant:p.R258W
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BAG3

NM_004281.4:p.R258W

Associated Papers

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

The chaperone-assisted selective autophagy complex dynamics and dysfunctions.

Tedesco B et al.

Autophagy, 2023

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

Qu HQ et al.

Journal of the American Heart Association, 2022

Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.

Chan W et al.

Eclinicalmedicine, 2022

35747179 (PubMed )
Supplement: mmc1.pdf

Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.

Guelly C et al.

Peerj, 2021

33552729 (PubMed )
Supplement: peerj-09-10711-s004.xlsx › list_of_307_variants_

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result

Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center.

Luo YB et al.

Frontiers in Neurology, 2020

Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.

Sha Y et al.

Bmc Medical Genetics, 2019

31370824 (PubMed )
Supplement: 12881_2019_864_MOESM2_ESM.xlsx › Sheet1

Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies.

Lu C et al.

Journal of Translational Medicine, 2018

30165862 (PubMed )
Supplement: 12967_2018_1605_MOESM3_ESM.xlsx › Sheet1

BAG3-related myofibrillar myopathy requiring heart transplantation for restrictive cardiomyopathy.

Finsterer J et al.

Molecular Genetics and Metabolism Reports, 2018

BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome.

Kostera-Pruszczyk A et al.

Journal of Muscle Research and Cell Motility, 2015

BAG3: a new player in the heart failure paradigm.

Knezevic T et al.

Heart Failure Reviews, 2015

BAG3-related myofibrillar myopathy in a Chinese family.

Lee HC et al.

Clinical Genetics, 2012

Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes.

Arimura T et al.

Human Mutation, 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."