Varaico: Literature-Extracted Genetic Variants

Gene:KCNK16
Variant:p.L114P
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KCNK16

NM_001135106.2:p.L114P

Associated Papers

The crucial role of potassium ion channels in diabetes mellitus and its complications: A review.

Yang X et al.

Channels (austin, Tex.), 2025

The MODY-associated KCNK16 L114P mutation increases islet glucagon secretion and limits insulin secretion resulting in transient neonatal diabetes and glucose dyshomeostasis in adults.

Nakhe AY et al.

Elife, 2024

The MODY-associated KCNK16 L114P mutation increases islet glucagon secretion and limits insulin secretion resulting in transient neonatal diabetes and glucose dyshomeostasis in adults.

Nakhe AY et al.

Biorxiv : the Preprint Server for Biology, 2024

Alkaline-sensitive two-pore domain potassium channels form functional heteromers in pancreatic β-cells.

Khoubza L et al.

The Journal of Biological Chemistry, 2022

Allosteric coupling between transmembrane segment 4 and the selectivity filter of TALK1 potassium channels regulates their gating by extracellular pH.

Tsai WH et al.

The Journal of Biological Chemistry, 2022

The application of precision medicine in monogenic diabetes.

Barbetti F et al.

Expert Review of Endocrinology & Metabolism, 2022

A KCNK16 mutation causing TALK-1 gain of function is associated with maturity-onset diabetes of the young.

Graff SM et al.

Jci Insight, 2021

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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."