Varaico: Literature-Extracted Genetic Variants

Gene:KCNK3
Variant:p.G97R
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KCNK3

NM_002246.3:p.G97R

Associated Papers

Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.

Umerenkov D et al.

Life Science Alliance, 2023

37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM

Channelopathy Genes in Pulmonary Arterial Hypertension.

Welch CL et al.

Biomolecules, 2022

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

A lower X-gate in TASK channels traps inhibitors within the vestibule.

Rödström KEJ et al.

Nature, 2020

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

Abbasi Y et al.

Molecular Genetics & Genomic Medicine, 2018

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

Olschewski A et al.

The European Respiratory Journal, 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

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Machado RD et al.

Human Mutation, 2015

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

The genetic basis of pulmonary arterial hypertension.

Ma L et al.

Human Genetics, 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."