Varaico: Literature-Extracted Genetic Variants

Gene:KCND3
Variant:p.G600R
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KCND3

NM_001378969.1:p.G600R

Associated Papers

Association of Cardiac Electrical Disorders With KCND3 Gene Mutation.

Ahammed MR et al.

Cureus, 2023

Rare Gain-of-Function KCND3 Variant Associated with Cerebellar Ataxia, Parkinsonism, Cognitive Dysfunction, and Brain Iron Accumulation.

Hsiao CT et al.

International Journal of Molecular Sciences, 2021

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Inter-Regulation of Kv4.3 and Voltage-Gated Sodium Channels Underlies Predisposition to Cardiac and Neuronal Channelopathies.

Clatot J et al.

International Journal of Molecular Sciences, 2020

A Novel Gain-of-Function KCND3 Variant Associated with Brugada Syndrome.

Li X et al.

Cardiology, 2020

Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.

Dehghani-Samani A et al.

Acta Cardiologica Sinica, 2019

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2

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

Wu Y et al.

Forensic Sciences Research, 2017

Drug-induced Inhibition and Trafficking Disruption of ion Channels: Pathogenesis of QT Abnormalities and Drug-induced Fatal Arrhythmias.

Cubeddu LX

Current Cardiology Reviews, 2016

Two novel Brugada syndrome-associated mutations increase KV4.3 membrane expression and function.

You T et al.

International Journal of Molecular Medicine, 2015

Evaluation of genes encoding for the transient outward current (Ito) identifies the KCND2 gene as a cause of J-wave syndrome associated with sudden cardiac death.

Perrin MJ et al.

Circulation. Cardiovascular Genetics, 2014

High prevalence of genetic variants previously associated with Brugada syndrome in new exome data.

Risgaard B et al.

Clinical Genetics, 2013

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

Bébarová M

International Journal of Cardiology, 2013

A novel KCND3 gain-of-function mutation associated with early-onset of persistent lone atrial fibrillation.

Olesen MS et al.

Cardiovascular Research, 2013

The genetic component of Brugada syndrome.

Nielsen MW et al.

Frontiers in Physiology, 2013

Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.

Crotti L et al.

Journal of the American College of Cardiology, 2012

Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death.

Giudicessi JR et al.

Human Mutation, 2012

Potassium-channel mutations and cardiac arrhythmias--diagnosis and therapy.

Giudicessi JR et al.

Nature Reviews. Cardiology, 2012

Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome.

Giudicessi JR et al.

Heart Rhythm, 2011

KCND3 mutations in Brugada syndrome: the plot thickens.

van den Berg MP et al.

Heart Rhythm, 2011

Loss of function associated with novel mutations of the SCN5A gene in patients with Brugada syndrome.

Baroudi G et al.

The Canadian Journal of Cardiology, 2004

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

Holst AG et al.

The Canadian Journal of Cardiology, 0

Distinguishing pathogenic mutations from innocuous rare variants in gene discovery for Brugada syndrome.

Roberts JD 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."