Varaico: Literature-Extracted Genetic Variants

Gene:BAG3
Variant:p.C151R
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BAG3

NM_004281.4:p.C151R

Associated Papers

The Utility of Genome-Wide Association Studies in Inherited Arrhythmias and Cardiomyopathies.

Dababneh S et al.

Genes, 2025

Circulating Cardiovascular Proteomic Associations With Genetics and Disease.

McGurk KA et al.

Circulation. Genomic and Precision Medicine, 2025

41054850 (PubMed )
Supplement: hcg-18-e005005-s001.docx

Multiple classes of human intracellular Heme-binding proteins with pathology-associated polymorphisms of heme coordinating residues.

Tsiftsoglou SA et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2025

Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.

Tadros R et al.

Nature Genetics, 2025

39966646 (PubMed )
Supplement: 41588_2025_2087_MOESM3_ESM.pdf

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

Genetic landscape of phospholamban cardiomyopathies.

Vafiadaki E et al.

Frontiers in Cell and Developmental Biology, 2025

Genetic mutations in lymphocytic variant of hypereosinophilic syndrome: study of five siblings.

Walkenhorst M et al.

Frontiers in Medicine, 2025

41488087 (PubMed )
Supplement: Table_1.xlsx › Data

Bidirectional Risk Modulator and Modifier Variant of Dilated and Hypertrophic Cardiomyopathy in BAG3.

Park J et al.

Jama Cardiology, 2024

The Genetic Factors Influencing Cardiomyopathies and Heart Failure across the Allele Frequency Spectrum.

Mukhopadhyay S et al.

Journal of Cardiovascular Translational Research, 2024

Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.

Allouba M et al.

European Heart Journal, 2023

Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid.

Sangiorgi E et al.

Genes, 2023

38002998 (PubMed )
Supplement: genes-14-02055-s001.zip › SupplementaryTable2.xlsx › Foglio1

Plasma proteomic associations with genetics and health in the UK Biobank.

Sun BB et al.

Nature, 2023

Functional analysis of a common BAG3 allele associated with protection from heart failure.

Perez-Bermejo JA et al.

Nature Cardiovascular Research, 2023

BAG3: Nature's Quintessential Multi-Functional Protein Functions as a Ubiquitous Intra-Cellular Glue.

Brenner CM et al.

Cells, 2023

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

Qu HQ et al.

Journal of the American Heart Association, 2022

Whole exome sequencing and co-expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus.

Hammer MF et al.

Epilepsia, 2022

Phenotypic screening with deep learning identifies HDAC6 inhibitors as cardioprotective in a BAG3 mouse model of dilated cardiomyopathy.

Yang J et al.

Science Translational Medicine, 2022

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S3

Genetic and Epigenetic Factors of Takotsubo Syndrome: A Systematic Review.

Ferradini V et al.

International Journal of Molecular Sciences, 2021

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.

Tadros R et al.

Nature Genetics, 2021

33495596 (PubMed )
Supplement: EMS114661-supplement-Supplementary_Tables.xlsx › ST15

A genetic association study of heart failure: more evidence for the role of BAG3 in idiopathic dilated cardiomyopathy.

de Denus S et al.

Esc Heart Failure, 2020

The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.

Aguib Y et al.

Npj Genomic Medicine, 2020

33110626 (PubMed )
Supplement: 41525_2020_153_MOESM1_ESM.pdf

Sequence variants with large effects on cardiac electrophysiology and disease.

Norland K et al.

Nature Communications, 2019

Global view of the RAF-MEK-ERK module and its immediate downstream effectors.

Santini CC et al.

Scientific Reports, 2019

31350469 (PubMed )
Supplement: 41598_2019_47245_MOESM8_ESM.xlsx › TableS7.csv

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Famiglietti ML et al.

Database : the Journal of Biological Databases and Curation, 2019

30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common

Association of Variants in BAG3 With Cardiomyopathy Outcomes in African American Individuals.

Myers VD et al.

Jama Cardiology, 2018

Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy.

Esslinger U et al.

Plos One, 2017

A novel miR-371a-5p-mediated pathway, leading to BAG3 upregulation in cardiomyocytes in response to epinephrine, is lost in Takotsubo cardiomyopathy.

d'Avenia M et al.

Cell Death & Disease, 2015

BAG3: a new player in the heart failure paradigm.

Knezevic T et al.

Heart Failure Reviews, 2015

Novel linkage of LMNA Single Nucleotide Polymorphism with Dilated Cardiomyopathy in an Indian case study.

Banerjee A et al.

International Journal of Cardiology. Heart & Vasculature, 2015

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A06Q-01A.domain

Decreased levels of BAG3 in a family with a rare variant and in idiopathic dilated cardiomyopathy.

Feldman AM et al.

Journal of Cellular Physiology, 2014

Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.

Friedrich C et al.

Embo Molecular Medicine, 2014

24972929 (PubMed )
Supplement: emmm0006-0937-SD4.pdf

Genetic profiling for risk reduction in human cardiovascular disease.

Puckelwartz MJ et al.

Genes, 2014

Polymorphisms of the antiapoptotic protein bag3 may play a role in the pathogenesis of tako-tsubo cardiomyopathy.

Citro R et al.

International Journal of Cardiology, 2013

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

Villard E et al.

European Heart Journal, 2011

Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets.

Isokpehi RD et al.

Bioinformatics and Biology Insights, 2010

20981267 (PubMed )
Supplement: BBI-4-supplementary.xls › SNPs3D_-_Substitutions_from_Cys
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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."