Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.K39R
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KCNJ11

NM_000525.4:p.K39R

Associated Papers

Residue 39 of Kir6.2 drives a difference in ATP sensitivity in human and canine beta-cell KATP channels.

Vedovato N et al.

Frontiers in Physiology, 2025

Structure of an open KATP channel reveals tandem PIP2 binding sites mediating the Kir6.2 and SUR1 regulatory interface.

Driggers CM et al.

Nature Communications, 2024

Structure of an open K ATP channel reveals tandem PIP 2 binding sites mediating the Kir6.2 and SUR1 regulatory interface.

Driggers CM et al.

Biorxiv : the Preprint Server for Biology, 2024

Ligand-mediated Structural Dynamics of a Mammalian Pancreatic KATP Channel.

Sung MW et al.

Journal of Molecular Biology, 2022

The dynamic interplay of PIP2 and ATP in the regulation of the KATP channel.

Pipatpolkai T et al.

The Journal of Physiology, 2022

Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype.

Garcin L et al.

Pediatric Diabetes, 2020

New insights into KATP channel gene mutations and neonatal diabetes mellitus.

Pipatpolkai T et al.

Nature Reviews. Endocrinology, 2020

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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."