Varaico: Literature-Extracted Genetic Variants

Gene:KCNK17
Variant:p.G88R
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KCNK17

NM_031460.4:p.G88R

Associated Papers

BK channels of five different subunit combinations underlie the de novo KCNMA1 G375R channelopathy.

Geng Y et al.

The Journal of General Physiology, 2023

Alkaline-sensitive two-pore domain potassium channels form functional heteromers in pancreatic β-cells.

Khoubza L et al.

The Journal of Biological Chemistry, 2022

Diverse Molecular Mechanisms Underlying Pathogenic Protein Mutations: Beyond the Loss-of-Function Paradigm.

Backwell L et al.

Annual Review of Genomics and Human Genetics, 2022

Pathophysiological Role of K2P Channels in Human Diseases.

Lee LM et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2021

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

Inoue M et al.

Pflugers Archiv : European Journal of Physiology, 2020

Mutation of a single residue promotes gating of vertebrate and invertebrate two-pore domain potassium channels.

Ben Soussia I et al.

Nature Communications, 2019

Heterodimerization of two pore domain K+ channel TASK1 and TALK2 in living heterologous expression systems.

Suzuki Y et al.

Plos One, 2017

The role of acid-sensitive two-pore domain potassium channels in cardiac electrophysiology: focus on arrhythmias.

Decher N et al.

Pflugers Archiv : European Journal of Physiology, 2015

Inherited progressive cardiac conduction disorders.

Baruteau AE et al.

Current Opinion in Cardiology, 2015

Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.

Friedrich C et al.

Embo Molecular Medicine, 2014

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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."