Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.V14L
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CAV3

NM_033337.3:p.V14L

Associated Papers

Caveolin 3 Variant T78M in a Large Family With Brugada Syndrome: Clinical Features and Coexistence of ADRB1 and GRK5 Gene Mutation.

Santoro F et al.

Journal of Cardiovascular Electrophysiology, 2025

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

Remodeling of Ion Channel Trafficking and Cardiac Arrhythmias.

Blandin CE et al.

Cells, 2021

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

Pradhan BS et al.

International Journal of Molecular Sciences, 2020

Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.

Son MJ et al.

Journal of Korean Medical Science, 2018

Cardiac channelopathies: The role of sodium channel mutations.

Fonseca DJ et al.

Revista Portuguesa De Cardiologia, 2018

The Cardiac Sodium Channel and Its Protein Partners.

Balse E et al.

Handbook of Experimental Pharmacology, 2018

Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.

Ioakeimidis NS et al.

Journal of Biological Research (thessalonike, Greece), 2017

Genetic Determinants of Hereditary Bradyarrhythmias: A Contemporary Review of a Diverse Group of Disorders.

Rezazadeh S et al.

The Canadian Journal of Cardiology, 2017

Protein assemblies of sodium and inward rectifier potassium channels control cardiac excitability and arrhythmogenesis.

Willis BC et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2015

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

Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data.

Andreasen C et al.

The Canadian Journal of Cardiology, 2013

Channelopathies from mutations in the cardiac sodium channel protein complex.

Adsit GS et al.

Journal of Molecular and Cellular Cardiology, 2013

Cardiac ion channelopathies and the sudden infant death syndrome.

Wilders R

Isrn Cardiology, 2012

Cardiac ion channel mutations in the sudden infant death syndrome.

Klaver EC et al.

International Journal of Cardiology, 2011

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

Wilde AA et al.

Circulation Research, 2011

Cardiac channelopathies and sudden infant death syndrome.

Tfelt-Hansen J et al.

Cardiology, 2011

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

The genetic basis of long QT and short QT syndromes: a mutation update.

Hedley PL et al.

Human Mutation, 2009

Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.

Cronk LB et al.

Heart Rhythm, 2007

Sudden infant death syndrome and long QT syndrome: the zealots versus the naysayers.

Border WL et al.

Heart Rhythm, 2007

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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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."