Varaico: Literature-Extracted Genetic Variants

Gene:BAG3
Variant:p.L462P
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BAG3

NM_004281.4:p.L462P

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

Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.

Gold JI et al.

American Journal of Human Genetics, 2025

40628270 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.

Gold J et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38559092 (PubMed )
Supplement: media-1.xlsx › MICUSeq.Data.Filtered.Clean_Spl

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

BAG3 Regulation of RAB35 Mediates the Endosomal Sorting Complexes Required for Transport/Endolysosome Pathway and Tau Clearance.

Lin H et al.

Biological Psychiatry, 2022

Lysine acetylation regulates the interaction between proteins and membranes.

Okada AK et al.

Nature Communications, 2021

34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1

Advances in the role and mechanism of BAG3 in dilated cardiomyopathy.

Liu L et al.

Heart Failure Reviews, 2021

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

Sarparanta J et al.

International Journal of Molecular Sciences, 2020

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

Kim SJ et al.

Genes & Genomics, 2018

Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease.

Shy M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2018

The Multifunctional Protein BAG3: A Novel Therapeutic Target in Cardiovascular Disease.

Myers VD et al.

Jacc. Basic to Translational Science, 2018

Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches.

Batonnet-Pichon S et al.

Journal of Neuromuscular Diseases, 2017

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

Stürner E et al.

Frontiers in Molecular Neuroscience, 2017

BAG3: a new player in the heart failure paradigm.

Knezevic T et al.

Heart Failure Reviews, 2015

Role of Imaging in the Evaluation of Patients at Risk for Sudden Cardiac Death: Genotype-Phenotype Intersection.

Nagueh SF et al.

Jacc. Cardiovascular Imaging, 2015

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."