Varaico: Literature-Extracted Genetic Variants

Gene:KCNE2
Variant:p.V65M
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KCNE2

NM_172201.2:p.V65M

Associated Papers

HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature.

DiFrancesco JC et al.

Epilepsy Research, 2019

Long QT Syndrome and Sinus Bradycardia-A Mini Review.

Wilders R et al.

Frontiers in Cardiovascular Medicine, 2018

Loss-of-Function KCNE2 Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation?

Roberts JD et al.

Circulation. Arrhythmia and Electrophysiology, 2017

Molecular Pathophysiology of Congenital Long QT Syndrome.

Bohnen MS et al.

Physiological Reviews, 2017

The voltage-gated channel accessory protein KCNE2: multiple ion channel partners, multiple ways to long QT syndrome.

Eldstrom J et al.

Expert Reviews in Molecular Medicine, 2011

Pharmacogenetics and cardiac ion channels.

Roepke TK et al.

Vascular Pharmacology, 2006

Pharmacogenetic considerations in diseases of cardiac ion channels.

Anantharam A et al.

The Journal of Pharmacology and Experimental Therapeutics, 2003

Identification and functional characterization of a novel KCNE2 (MiRP1) mutation that alters HERG channel kinetics.

Isbrandt D et al.

Journal of Molecular Medicine (berlin, Germany), 2002

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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."