Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ8
Variant:p.V346I
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KCNJ8

NM_004982.4:p.V346I

Associated Papers

Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.

Coyote-Maestas W et al.

Elife, 2022

35639599 (PubMed )
Supplement: elife-76903-data1.zip › SourceData › input_data › KCNJ_Clinvar_0325322_edited_annotations_.xlsx › clinvar_KCNJx_0325322

ATP-Sensitive Potassium Channels and Their Physiological and Pathophysiological Roles.

Tinker A et al.

Comprehensive Physiology, 2018

Adenosine Triphosphate-Sensitive Potassium Currents in Heart Disease and Cardioprotection.

Nichols CG

Cardiac Electrophysiology Clinics, 2016

Role of ATP-sensitive K+ channels in cardiac arrhythmias.

Nakaya H

Journal of Cardiovascular Pharmacology and Therapeutics, 2014

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.

Brownstein CA et al.

European Journal of Medical 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

K(ATP) channel action in vascular tone regulation: from genetics to diseases.

Shi WW et al.

Sheng Li Xue Bao : [acta Physiologica Sinica], 2012

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

Loss-of-function mutations in the KCNJ8-encoded Kir6.1 K(ATP) channel and sudden infant death syndrome.

Tester DJ et al.

Circulation. Cardiovascular Genetics, 2011

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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."