Varaico: Literature-Extracted Genetic Variants

Gene:KCNK3
Variant:p.E182K
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KCNK3

NM_002246.3:p.E182K

Associated Papers

Whole exome sequencing unravels genetic architecture and its clinical implications in pediatric pulmonary arterial hypertension.

Jiang DJ et al.

International Journal of Cardiology, 2025

Implication of Potassium Channels in the Pathophysiology of Pulmonary Arterial Hypertension.

Le Ribeuz H et al.

Biomolecules, 2020

TASK channels: channelopathies, trafficking, and receptor-mediated inhibition.

Inoue M et al.

Pflugers Archiv : European Journal of Physiology, 2020

Characterization and regulation of wild-type and mutant TASK-1 two pore domain potassium channels indicated in pulmonary arterial hypertension.

Cunningham KP et al.

The Journal of Physiology, 2019

Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension.

Abbasi Y et al.

Molecular Genetics & Genomic Medicine, 2018

Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults.

Zhu N et al.

Circulation. Genomic and Precision Medicine, 2018

TASK-1 (KCNK3) channels in the lung: from cell biology to clinical implications.

Olschewski A et al.

The European Respiratory Journal, 2017

The Impact of Heterozygous KCNK3 Mutations Associated With Pulmonary Arterial Hypertension on Channel Function and Pharmacological Recovery.

Bohnen MS et al.

Journal of the American Heart Association, 2017

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease

Breathing Stimulant Compounds Inhibit TASK-3 Potassium Channel Function Likely by Binding at a Common Site in the Channel Pore.

Chokshi RH et al.

Molecular Pharmacology, 2015

Genetics of pulmonary hypertension.

Best DH et al.

Current Opinion in Cardiology, 2014

KCNK3: new gene target for pulmonary hypertension?

Girerd B et al.

Expert Review of Respiratory Medicine, 2014

Genetics: Potassium channelopathy implicated in the pathogenesis of familial PAH.

Roberts A

Nature Reviews. Cardiology, 2013

A novel channelopathy in pulmonary arterial hypertension.

Ma L et al.

The New England Journal of Medicine, 2013

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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."