Varaico: Literature-Extracted Genetic Variants

Gene:KCNK3
Variant:p.G106R
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KCNK3

NM_002246.3:p.G106R

Associated Papers

Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry.

Cruz-Utrilla A et al.

International Journal of Molecular Sciences, 2022

36142358 (PubMed )
Supplement: ijms-23-10433-s001.zip › Table_S1.pdf

Potassium (K+) channels in the pulmonary vasculature: Implications in pulmonary hypertension Physiological, pathophysiological and pharmacological regulation.

Mondéjar-Parreño G et al.

Pharmacology & Therapeutics, 2021

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

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

Olschewski A et al.

The European Respiratory Journal, 2017

An homozygous mutation in KCNK3 is associated with an aggressive form of hereditary pulmonary arterial hypertension.

Navas Tejedor P et al.

Clinical Genetics, 2017

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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."