Varaico: Literature-Extracted Genetic Variants

Gene:TRDN
Variant:p.Q205*
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TRDN

NM_006073.4:p.Q205*

Associated Papers

Unusual catecholaminergic polymorphic ventricular tachycardia and bradycardia caused by a novel triadin variant in 2 siblings from a Malian family.

Diakité M et al.

Medicine, 2025

Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy.

Zaffran S et al.

International Journal of Molecular Sciences, 2023

Novel cases of pediatric sudden cardiac death secondary to TRDN mutations presenting as long QT syndrome at rest and catecholaminergic polymorphic ventricular tachycardia during exercise: The TRDN arrhythmia syndrome.

Rabbani B et al.

American Journal of Medical Genetics. Part A, 2021

Advances in the Molecular Genetics of Catecholaminergic Polymorphic Ventricular Tachycardia.

Song J et al.

Frontiers in Pharmacology, 2021

Triadin Knockout Syndrome Is Absent in a Multi-Center Molecular Autopsy Cohort of Sudden Infant Death Syndrome and Sudden Unexplained Death in the Young and Is Extremely Rare in the General Population.

Clemens DJ et al.

Circulation. Genomic and Precision Medicine, 2020

Pediatric Malignant Arrhythmias Caused by Rare Homozygous Genetic Variants in TRDN: A Comprehensive Interpretation.

Sarquella-Brugada G et al.

Frontiers in Pediatrics, 2020

International Triadin Knockout Syndrome Registry.

Clemens DJ et al.

Circulation. Genomic and Precision Medicine, 2019

A unique triadin exon deletion causing a null phenotype.

O'Callaghan BM et al.

Heartrhythm Case Reports, 2018

Calcium Signaling and Cardiac Arrhythmias.

Landstrom AP et al.

Circulation Research, 2017

Ion channelopathies associated genetic variants as the culprit for sudden unexplained death.

Wang S et al.

Forensic Science International, 2017

Integration of 60,000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia-associated variants.

Paludan-Müller C et al.

Clinical Genetics, 2017

Compound Heterozygous Triadin Mutation Causing Cardiac Arrest in Two Siblings.

Walsh MA et al.

Pacing and Clinical Electrophysiology : Pace, 2016

New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene.

Rooryck C et al.

Journal of Cardiovascular Electrophysiology, 2015

Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome.

Altmann HM et al.

Circulation, 2015

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.

Roux-Buisson N et al.

Human Molecular Genetics, 2012

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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."