Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.A49P
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KCNQ1

NM_000218.3:p.A49P

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_S1

MTMR4 SNVs modulate ion channel degradation and clinical severity in congenital long QT syndrome: insights in the mechanism of action of protective modifier genes.

Lee YK et al.

Cardiovascular Research, 2021

32173736 (PubMed )
Supplement: cvaa019_supplementary_data.docx

New mutations in the KVLQT1 potassium channel that cause long-QT syndrome.

Li H et al.

Circulation, 1998

Diseases caused by voltage-gated ion channels.

Fontaine B et al.

Molecular Aspects of Medicine, 1997

Molecular genetics of long QT syndrome from genes to patients.

Wang Q et al.

Current Opinion in Cardiology, 1997

Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.

Wang Q et al.

Nature Genetics, 1996

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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."