Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.Q52E
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KCNJ11

NM_000525.4:p.Q52E

Associated Papers

Mechanistic insights on KATP channel regulation from cryo-EM structures.

Driggers CM et al.

The Journal of General Physiology, 2023

Pharmacological chaperones of ATP-sensitive potassium channels: Mechanistic insight from cryoEM structures.

Martin GM et al.

Molecular and Cellular Endocrinology, 2020

Anti-diabetic drug binding site in a mammalian KATP channel revealed by Cryo-EM.

Martin GM et al.

Elife, 2017

Structure of a Pancreatic ATP-Sensitive Potassium Channel.

Li N et al.

Cell, 2017

Pharmacological rescue of trafficking-impaired ATP-sensitive potassium channels.

Martin GM et al.

Frontiers in Physiology, 2013

Engineered interaction between SUR1 and Kir6.2 that enhances ATP sensitivity in KATP channels.

Pratt EB et al.

The Journal of General Physiology, 2012

Engineered Kir6.2 mutations that correct the trafficking defect of K(ATP) channels caused by specific SUR1 mutations.

Zhou Q et al.

Channels (austin, Tex.), 0

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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."