Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.E334K
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MYBPC3

NM_000256.3:p.E334K

Associated Papers

Age-Dependent Role of Genetics and Renal Function for Atrial Fibrillation Development in Hypertrophic Cardiomyopathy.

Chung H et al.

Korean Circulation Journal, 2025

40736383 (PubMed )
Supplement: kcj-55-1001-s003.doc

Genome-wide analysis identifies susceptibility loci for heart failure and nonischemic cardiomyopathy subtype in the East Asian populations.

Han Y et al.

Plos Genetics, 2025

Disparate Molecular Properties of Two Hypertrophic Cardiomyopathy-Associated cMyBP-C Mutants Reveal Distinct Pathogenic Mechanisms Beyond Haploinsufficiency.

Thanassoulas A et al.

Biomedicines, 2025

Pathogenic genes and clinical prognosis in hypertrophic cardiomyopathy.

Hong Y et al.

World Journal of Cardiology, 2025

Effects of genetic mutations on left ventricular myocardial mechanics and fibrosis patterns in hypertrophic cardiomyopathy.

Kim M et al.

Scientific Reports, 2025

39755839 (PubMed )
Supplement: 41598_2025_85201_MOESM1_ESM.docx

Genetic landscape of hypertrophic cardiomyopathy in Hong Kong Chinese population.

Lee DPH et al.

Frontiers in Genetics, 2025

The N-Terminal Mutations of cMyBP-C Affect Calcium Regulation, Kinetics, and Force of Muscle Contraction.

Nabiev SR et al.

International Journal of Molecular Sciences, 2024

Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction.

Hirono K et al.

Journal of the American Heart Association, 2024

39494597 (PubMed )
Supplement: JAH3-13-e035614-s001.pdf

Novel FLNC variants in pediatric cardiomyopathy: an insight into disease mechanisms.

Dong R et al.

Human Genomics, 2024

39472949 (PubMed )
Supplement: 40246_2024_683_MOESM2_ESM.xls › Sheet1

The D75N and P161S Mutations in the C0-C2 Fragment of cMyBP-C Associated with Hypertrophic Cardiomyopathy Disturb the Thin Filament Activation, Nucleotide Exchange in Myosin, and Actin-Myosin Interaction.

Kochurova AM et al.

International Journal of Molecular Sciences, 2024

Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.

Bonaventura J et al.

Journal of the American Heart Association, 2024

38757491 (PubMed )
Supplement: JAH3-13-e033565-s001.pdf

Genomic characteristics and immune landscape of super multiple primary lung cancer.

Yang Z et al.

Ebiomedicine, 2024

38364701 (PubMed )
Supplement: mmc6.xlsx › Sheet1

Morphological and Genetic Aspects for Post-Mortem Diagnosis of Hypertrophic Cardiomyopathy: A Systematic Review.

Cianci V et al.

International Journal of Molecular Sciences, 2024

Cardiac myosin-binding protein C N-terminal interactions with myosin and actin filaments: Opposite effects of phosphorylation and M-domain mutations.

Wong FL et al.

Journal of Molecular and Cellular Cardiology, 2024

Hypertrophic cardiomyopathy in MYBPC3 carriers in aging.

Ananthamohan K et al.

The Journal of Cardiovascular Aging, 2024

Clinical and Genetic Features of Korean Inherited Arrhythmia Probands.

Jeong JH et al.

Korean Circulation Journal, 2023

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.

McGurk KA et al.

American Journal of Human Genetics, 2023

37652022 (PubMed )
Supplement: mmc3.xlsx › Table_S10

Hypertrophic Cardiomyopathy: Genetic Foundations, Outcomes, Interconnections, and Their Modifiers.

Glavaški M et al.

Medicina (kaunas, Lithuania), 2023

Whole-exome sequencing in searching for novel variants associated with the development of high altitude pulmonary edema.

Chen M et al.

Gene, 2023

Cryo-Electron Microscopy Reveals Cardiac Myosin Binding Protein-C M-Domain Interactions with the Thin Filament.

Risi CM et al.

Journal of Molecular Biology, 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

Genotype-Phenotype Associations with Restrictive Cardiomyopathy Induced by Pathogenic Genetic Mutations.

Yang Z et al.

Reviews in Cardiovascular Medicine, 2022

Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort.

Tomar S et al.

Circulation. Genomic and Precision Medicine, 2022

Actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes.

Chetruengchai W et al.

Journal of Human Genetics, 2022

The mechanics of the heart: zooming in on hypertrophic cardiomyopathy and cMyBP-C.

Suay-Corredera C et al.

Febs Letters, 2022

Genetic variants in Chinese patients with sporadic dilated cardiomyopathy: a cross-sectional study.

Shen C et al.

Annals of Translational Medicine, 2022

Gender- and age-related differences in distinct phenotypes of hypertrophic cardiomyopathy-associated mutation MYBPC3-E334K.

Yang QL et al.

Heart and Vessels, 2021

Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation.

Thompson AD et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33782553 (PubMed )
Supplement: NIHMS1689970-supplement-Table_S1.xlsx › Sheet1

Rare variants discovery by extensive whole-genome sequencing of the Han Chinese population in Taiwan: Applications to cardiovascular medicine.

Juang JJ et al.

Journal of Advanced Research, 2021

A high-throughput fluorescence lifetime-based assay to detect binding of myosin-binding protein C to F-actin.

Bunch TA et al.

The Journal of General Physiology, 2021

Sarcomere mutation negative hypertrophic cardiomyopathy is associated with ageing and obesity.

de Feria AE et al.

Open Heart, 2021

33637569 (PubMed )
Supplement: openhrt-2020-001560supp001.pdf

Contribution of sarcomere gene mutations to left atrial function in patients with hypertrophic cardiomyopathy.

Chung H et al.

Cardiovascular Ultrasound, 2021

33407484 (PubMed )
Supplement: 12947_2020_233_MOESM1_ESM.docx

DNA Methylation, Deamination, and Translesion Synthesis Combine to Generate Footprint Mutations in Cancer Driver Genes in B-Cell Derived Lymphomas and Other Cancers.

Rogozin IB et al.

Frontiers in Genetics, 2021

34093666 (PubMed )
Supplement: Data_Sheet_3.xls › Sheet1

Case Report of Left Ventricular Noncompaction Cardiomyopathy Characterized by Undulating Phenotypes in Adult Patients.

Miyake W et al.

International Heart Journal, 2021

Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing.

Wu Y et al.

Frontiers in Genetics, 2021

34868264 (PubMed )
Supplement: Table2.XLSX › Sheet1

Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.

Helms AS et al.

Circulation. Genomic and Precision Medicine, 2020

32841044 (PubMed )
Supplement: hcg-13-396-s001.pdf

Genotype-Related Clinical Characteristics and Myocardial Fibrosis and their Association with Prognosis in Hypertrophic Cardiomyopathy.

Kim HY et al.

Journal of Clinical Medicine, 2020

Genes frequently associated with sudden death in primary hypertrophic cardiomyopathy.

Herrera-Rodríguez DL et al.

Archivos De Cardiologia De Mexico, 2020

Altered C10 domain in cardiac myosin binding protein-C results in hypertrophic cardiomyopathy.

Kuster DWD et al.

Cardiovascular Research, 2019

Chromosomal microarray and whole-exome sequence analysis in Taiwanese patients with autism spectrum disorder.

Chang YS et al.

Molecular Genetics & Genomic Medicine, 2019

Genetic relevance and determinants of mitral leaflet size in hypertrophic cardiomyopathy.

Chung H et al.

Cardiovascular Ultrasound, 2019

31660989 (PubMed )
Supplement: 12947_2019_171_MOESM2_ESM.docx

The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.

Bonaventura J et al.

Archives of Medical Science : Ams, 2019

31110529 (PubMed )
Supplement: AMS-15-33903-S1.pdf

Clinicopathological and Genetic Profiles of Cases with Myocytes Disarray-Investigation for Establishing the Autopsy Diagnostic Criteria for Hypertrophic Cardiomyopathy.

Hata Y et al.

Journal of Clinical Medicine, 2019

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
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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."