Varaico: Literature-Extracted Genetic Variants

Gene:KCNK16
Variant:p.A277E
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KCNK16

NM_001135106.2:p.A277E

Associated Papers

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

Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.

Huang YC et al.

Journal of Personalized Medicine, 2023

37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants

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

Khoubza L et al.

The Journal of Biological Chemistry, 2022

Beta-Cell Ion Channels and Their Role in Regulating Insulin Secretion.

Thompson B et al.

Comprehensive Physiology, 2021

Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.

Suzuki K et al.

Nature Genetics, 2019

Progress in defining the genetic contribution to type 2 diabetes susceptibility.

Morris AP

Current Opinion in Genetics & Development, 2018

TALK-1 reduces delta-cell endoplasmic reticulum and cytoplasmic calcium levels limiting somatostatin secretion.

Vierra NC et al.

Molecular Metabolism, 2018

Exome sequencing-based identification of novel type 2 diabetes risk allele loci in the Qatari population.

O'Beirne SL et al.

Plos One, 2018

30212457 (PubMed )
Supplement: pone.0199837.s005.pdf

TALK-1 channels control β cell endoplasmic reticulum Ca2+ homeostasis.

Vierra NC et al.

Science Signaling, 2017

Osteopontin activates the diabetes-associated potassium channel TALK-1 in pancreatic β-cells.

Dickerson MT et al.

Plos One, 2017

Type 2 Diabetes-Associated K+ Channel TALK-1 Modulates β-Cell Electrical Excitability, Second-Phase Insulin Secretion, and Glucose Homeostasis.

Vierra NC et al.

Diabetes, 2015

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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."