Varaico: Literature-Extracted Genetic Variants

Gene:RANGRF
Variant:p.E83D
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RANGRF

NM_016492.5:p.E83D

Associated Papers

MOG1L18F-mediated increase in late sodium current produces Long QT Syndrome.

Socuéllamos PG et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Molecular mechanism for the interaction of MOG1 with the intracellular loop II of cardiac sodium channel Nav1.5 and its role in arrhythmias.

Bai X et al.

Journal of Molecular and Cellular Cardiology, 2025

Genetic and Molecular Mechanisms in Brugada Syndrome.

Moras E et al.

Cells, 2023

Inherited and Acquired Rhythm Disturbances in Sick Sinus Syndrome, Brugada Syndrome, and Atrial Fibrillation: Lessons from Preclinical Modeling.

Iop L et al.

Cells, 2021

Genetic interpretation and clinical translation of minor genes related to Brugada syndrome.

Campuzano O et al.

Human Mutation, 2019

Mechanistic insights into the interaction of the MOG1 protein with the cardiac sodium channel Nav1.5 clarify the molecular basis of Brugada syndrome.

Yu G et al.

The Journal of Biological Chemistry, 2018

Cardiac channelopathies: The role of sodium channel mutations.

Fonseca DJ et al.

Revista Portuguesa De Cardiologia, 2018

Brugada syndrome: a fatal disease with complex genetic etiologies - still a long way to go.

Wu Y et al.

Forensic Sciences Research, 2017

Cardiac sodium channel regulator MOG1 regulates cardiac morphogenesis and rhythm.

Zhou J et al.

Scientific Reports, 2016

Cardiac Sodium Channel Mutations: Why so Many Phenotypes?

Liu M et al.

Current Topics in Membranes, 2016

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

Diseases caused by mutations in Nav1.5 interacting proteins.

Kyle JW et al.

Cardiac Electrophysiology Clinics, 2014

Cardiac sodium channel mutations: why so many phenotypes?

Liu M et al.

Nature Reviews. Cardiology, 2014

Brugada syndrome and p.E61X_RANGRF.

Campuzano O et al.

Cardiology Journal, 2014

Identifying potential functional impact of mutations and polymorphisms: linking heart failure, increased risk of arrhythmias and sudden cardiac death.

Jagu B et al.

Frontiers in Physiology, 2013

Arrhythmogenesis in Brugada syndrome: impact and constrains of current concepts.

Bébarová M

International 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

MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome.

Chakrabarti S et al.

Circulation. Arrhythmia and Electrophysiology, 2013

MOG1: a new susceptibility gene for Brugada syndrome.

Kattygnarath D et al.

Circulation. Cardiovascular Genetics, 2011

Sodium current and potassium transient outward current genes in Brugada syndrome: screening and bioinformatics.

Holst AG et al.

The Canadian Journal of Cardiology, 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."