Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.T59A
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MYBPC3

NM_000256.3:p.T59A

Associated Papers

MYBPC3 N-terminal missense mutations linked to hypertrophic cardiomyopathy strengthen actin binding and enhance residue mobility.

Kanassatega RS et al.

The Journal of Biological Chemistry, 2025

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

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_S2.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

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Ingles J et al.

Circulation. Genomic and Precision Medicine, 2019

30681346 (PubMed )
Supplement: hcg-12-e002460-s002.xlsx › Suppl_Table_8

Myosin binding protein C: implications for signal-transduction.

Knöll R

Journal of Muscle Research and Cell Motility, 2012

Structure and interactions of myosin-binding protein C domain C0: cardiac-specific regulation of myosin at its neck?

Ratti J et al.

The Journal of Biological Chemistry, 2011

Large-scale mutation screening in patients with dilated or hypertrophic cardiomyopathy: a pilot study using DGGE.

Zeller R et al.

Journal of Molecular Medicine (berlin, Germany), 2006

Cardiac myosin binding protein C: its role in physiology and disease.

Flashman E et al.

Circulation Research, 2004

Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.

Niimura H et al.

Circulation, 2002

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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."