Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ13
Variant:p.M125R
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KCNJ13

NM_002242.4:p.M125R

Associated Papers

Role of Kir7.1 K+ channel in retinal pigment epithelium probed in a Kir7.1-M125R-expressing mutant mouse.

Vera E et al.

American Journal of Physiology. Cell Physiology, 2025

Structure of the Ion Channel Kir7.1 and Implications for its Function in Normal and Pathophysiologic States.

Peisley A et al.

Biorxiv : the Preprint Server for Biology, 2024

The unique structural characteristics of the Kir 7.1 inward rectifier potassium channel: a novel player in energy homeostasis control.

Hernandez CC et al.

American Journal of Physiology. Cell Physiology, 2023

Kir7.1 disease mutant T153I within the inner pore affects K+ conduction.

Beverley KM et al.

American Journal of Physiology. Cell Physiology, 2022

Potassium Channel-Associated Bioelectricity of the Dermomyotome Determines Fin Patterning in Zebrafish.

Silic MR et al.

Genetics, 2020

G protein-coupled receptors differentially regulate glycosylation and activity of the inwardly rectifying potassium channel Kir7.1.

Carrington SJ et al.

The Journal of Biological Chemistry, 2018

ML418: The First Selective, Sub-Micromolar Pore Blocker of Kir7.1 Potassium Channels.

Swale DR et al.

Acs Chemical Neuroscience, 2016

G-protein-independent coupling of MC4R to Kir7.1 in hypothalamic neurons.

Ghamari-Langroudi M et al.

Nature, 2015

Cardiac and renal inward rectifier potassium channel pharmacology: emerging tools for integrative physiology and therapeutics.

Swale DR et al.

Current Opinion in Pharmacology, 2014

Channelopathies linked to plasma membrane phosphoinositides.

Logothetis DE et al.

Pflugers Archiv : European Journal of Physiology, 2010

A novel inward rectifier K+ channel with unique pore properties.

Krapivinsky G et al.

Neuron, 1998

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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."