Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.W68C
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KCNJ11

NM_000525.4:p.W68C

Associated Papers

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

Continuous spectrum of glucose dysmetabolism due to the KCNJ11 gene mutation-Case reports and review of the literature.

He B et al.

Journal of Diabetes, 2021

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

Pipatpolkai T et al.

Nature Reviews. Endocrinology, 2020

Patients with KCNJ11-related diabetes frequently have neuropsychological impairments compared with sibling controls.

Carmody D et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2016

Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.

Alkorta-Aranburu G et al.

Molecular Genetics and Metabolism, 2014

A conserved tryptophan at the membrane-water interface acts as a gatekeeper for Kir6.2/SUR1 channels and causes neonatal diabetes when mutated.

Männikkö R et al.

The Journal of Physiology, 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."