Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.R562M
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KCNQ1

NM_000218.3:p.R562M

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-1.docx

Targeting the IKs Channel PKA Phosphorylation Axis to Restore Its Function in High-Risk LQT1 Variants.

Zhong L et al.

Circulation Research, 2024

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Brewer KR et al.

Frontiers in Pharmacology, 2020

Extensive Diversity of Molecular Mechanisms Underlying the Congenital Long QT Syndrome Type 1.

Horie M

The Canadian Journal of Cardiology, 2018

Voltage-Dependent Gating: Novel Insights from KCNQ1 Channels.

Cui J

Biophysical Journal, 2016

Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt I(KS) regulation by PKA and PIP₂.

Dvir M et al.

Journal of Cell Science, 2014

Recent molecular insights from mutated IKS channels in cardiac arrhythmia.

Dvir M et al.

Current Opinion in Pharmacology, 2014

SCN5A channelopathies--an update on mutations and mechanisms.

Zimmer T et al.

Progress in Biophysics and Molecular Biology, 0

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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."