Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.F97C
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CAV3

NM_033337.3:p.F97C

Associated Papers

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

Human induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) for modeling cardiac arrhythmias: strengths, challenges and potential solutions.

Joshi J et al.

Frontiers in Physiology, 2024

Caveolin-3 and Caveolae regulate ventricular repolarization.

Markandeya YS et al.

Journal of Molecular and Cellular Cardiology, 2023

Role of Ca2+ in healthy and pathologic cardiac function: from normal excitation-contraction coupling to mutations that cause inherited arrhythmia.

Keefe JA et al.

Archives of Toxicology, 2023

Caveolin-3 and Arrhythmias: Insights into the Molecular Mechanisms.

He M et al.

Journal of Clinical Medicine, 2022

Remodeling of Ion Channel Trafficking and Cardiac Arrhythmias.

Blandin CE et al.

Cells, 2021

Cardiac potassium inward rectifier Kir2: Review of structure, regulation, pharmacology, and arrhythmogenesis.

Reilly L et al.

Heart Rhythm, 2021

A Role for Caveolin-3 in the Pathogenesis of Muscular Dystrophies.

Pradhan BS et al.

International Journal of Molecular Sciences, 2020

Discovery and characterization of a monogenetic insult, caveolin-3-V37L, that precipitated oligo-proteomic perturbations governing repolarization reserve.

Ye D et al.

International Journal of Cardiology, 2020

Long QT syndrome caveolin-3 mutations differentially modulate Kv 4 and Cav 1.2 channels to contribute to action potential prolongation.

Tyan L et al.

The Journal of Physiology, 2019

The genetic architecture of long QT syndrome: A critical reappraisal.

Giudicessi JR et al.

Trends in Cardiovascular Medicine, 2018

Cardiac channelopathies: The role of sodium channel mutations.

Fonseca DJ et al.

Revista Portuguesa De Cardiologia, 2018

Inward Rectifier Potassium Channels (Kir2.x) and Caveolin-3 Domain-Specific Interaction: Implications for Purkinje Cell-Dependent Ventricular Arrhythmias.

Vaidyanathan R et al.

Circulation. Arrhythmia and Electrophysiology, 2018

The Cardiac Sodium Channel and Its Protein Partners.

Balse E et al.

Handbook of Experimental Pharmacology, 2018

Caveolin-3 Microdomain: Arrhythmia Implications for Potassium Inward Rectifier and Cardiac Sodium Channel.

Vaidyanathan R et al.

Frontiers in Physiology, 2018

Sudden cardiac death: focus on the genetics of channelopathies and cardiomyopathies.

Magi S et al.

Journal of Biomedical Science, 2017

Long-QT syndrome-associated caveolin-3 mutations differentially regulate the hyperpolarization-activated cyclic nucleotide gated channel 4.

Motloch LJ et al.

Physiology International, 2017

IK1-enhanced human-induced pluripotent stem cell-derived cardiomyocytes: an improved cardiomyocyte model to investigate inherited arrhythmia syndromes.

Vaidyanathan R et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2016

Diseases caused by mutations in Nav1.5 interacting proteins.

Kyle JW et al.

Cardiac Electrophysiology Clinics, 2014

The role of CAV3 in long-QT syndrome: clinical and functional assessment of a caveolin-3/Kv11.1 double heterozygote versus caveolin-3 single heterozygote.

Hedley PL et al.

Circulation. Cardiovascular Genetics, 2013

To be or not to be: long-QT syndrome type 9.

Cutler MJ et al.

Circulation. Cardiovascular Genetics, 2013

Post-translational modifications of the cardiac Na channel: contribution of CaMKII-dependent phosphorylation to acquired arrhythmias.

Herren AW et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2013

Caveolin-3 suppresses late sodium current by inhibiting nNOS-dependent S-nitrosylation of SCN5A.

Cheng J et al.

Journal of Molecular and Cellular Cardiology, 2013

Channelopathies from mutations in the cardiac sodium channel protein complex.

Adsit GS et al.

Journal of Molecular and Cellular Cardiology, 2013

The interaction of caveolin 3 protein with the potassium inward rectifier channel Kir2.1: physiology and pathology related to long qt syndrome 9 (LQT9).

Vaidyanathan R et al.

The Journal of Biological Chemistry, 2013

Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel.

Wilde AA et al.

Circulation Research, 2011

Caveolinopathies: from the biology of caveolin-3 to human diseases.

Gazzerro E et al.

European Journal of Human Genetics : Ejhg, 2010

Rippling muscle disease: variable phenotype in a family with five afflicted members.

Jacobi C et al.

Muscle & Nerve, 2010

Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene.

Catteruccia M et al.

Neuromuscular Disorders : Nmd, 2009

Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.

Vatta M et al.

Circulation, 2006

Biophysical defects in voltage.gated sodium channels associated with long QT and Brugada syndromes.

Jones DK et al.

Channels (austin, Tex.), 0

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