Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ8
Variant:p.G343D
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KCNJ8

NM_004982.4:p.G343D

Associated Papers

Gain of function mutation in K(ATP) channels and resulting upregulation of coupling conductance are partners in crime in the impairment of Ca2+ oscillations in pancreatic ß-cells.

An M et al.

Mathematical Biosciences, 2024

Functional Regulation of KATP Channels and Mutant Insight Into Clinical Therapeutic Strategies in Cardiovascular Diseases.

Wang Z et al.

Frontiers in Pharmacology, 2022

Kir6.1-dependent KATP channels in lymphatic smooth muscle and vessel dysfunction in mice with Kir6.1 gain-of-function.

Davis MJ et al.

The Journal of Physiology, 2020

Diabetes induced by gain-of-function mutations in the Kir6.1 subunit of the KATP channel.

Remedi MS et al.

The Journal of General Physiology, 2017

Electrophysiologic consequences of KATP gain of function in the heart: Conduction abnormalities in Cantu syndrome.

Levin MD et al.

Heart Rhythm, 2015

Hypotension due to Kir6.1 gain-of-function in vascular smooth muscle.

Li A et al.

Journal of the American Heart Association, 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."