Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.R670K
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KCNQ1

NM_000218.3:p.R670K

Associated Papers

Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia Risk.

Harvey ML et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41445606 (PubMed )
Supplement: media-2.xlsx › File_S2

Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.

Tarnovskaya SI et al.

International Journal of Molecular Sciences, 2025

40724807 (PubMed )
Supplement: ijms-26-06561-s001.zip › ijms-3705358_SupplementaryTable2.xls › SupplementaryTable2

Syndromic forms of congenital hyperinsulinism.

Zenker M et al.

Frontiers in Endocrinology, 2023

37065762 (PubMed )
Supplement: Table_1.xlsx › Channelopathies

Gain-of-function mutation in the voltage-gated potassium channel gene KCNQ1 and glucose-stimulated hypoinsulinemia - case report.

Zhang J et al.

Bmc Endocrine Disorders, 2020

Cardiac Delayed Rectifier Potassium Channels in Health and Disease.

Chen L et al.

Cardiac Electrophysiology Clinics, 2016

IKs Gain- and Loss-of-Function in Early-Onset Lone Atrial Fibrillation.

Steffensen AB et al.

Journal of Cardiovascular Electrophysiology, 2015

Very early-onset lone atrial fibrillation patients have a high prevalence of rare variants in genes previously associated with atrial fibrillation.

Olesen MS et al.

Heart Rhythm, 2014

Disease-linked supertrafficking of a potassium channel.

Huang H et al.

The Journal of Biological Chemistry, 0

33600800 (PubMed )
Supplement: mmc1.pdf
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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."