Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ13
Variant:p.Q117R
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KCNJ13

NM_002242.4:p.Q117R

Associated Papers

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

Inward rectifier potassium (Kir) channels in the retina: living our vision.

Beverley KM et al.

American Journal of Physiology. Cell Physiology, 2022

A novel phenotype associated with the R162W variant in the KCNJ13 gene.

Schroeder M et al.

Ophthalmic Genetics, 2022

Sensing through Non-Sensing Ocular Ion Channels.

Kabra M et al.

International Journal of Molecular Sciences, 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

Focus on Kir7.1: physiology and channelopathy.

Kumar M et al.

Channels (austin, Tex.), 2014

Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.

Sergouniotis PI et al.

American Journal of Human Genetics, 2011

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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."