Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.P343A
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KCNQ1

NM_000218.3:p.P343A

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

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

Zhong L et al.

Circulation Research, 2024

A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.

Austin R et al.

Genetics in Medicine Open, 2024

39669597 (PubMed )
Supplement: mmc2.xlsx › Supp_tab_6

Two-stage electro-mechanical coupling of a KV channel in voltage-dependent activation.

Hou P et al.

Nature Communications, 2020

Voltage-Dependent Gating: Novel Insights from KCNQ1 Channels.

Cui J

Biophysical Journal, 2016

Pharmacological activation of normal and arrhythmia-associated mutant KCNQ1 potassium channels.

Seebohm G et al.

Circulation Research, 2003

Molecular determinants of KCNQ1 channel block by a benzodiazepine.

Seebohm G et al.

Molecular Pharmacology, 2003

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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."