Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.Q531*
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KCNQ1

NM_000218.3:p.Q531*

Associated Papers

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

The Pathological Mechanisms of Hearing Loss Caused by KCNQ1 and KCNQ4 Variants.

Homma K

Biomedicines, 2022

Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss.

Kojima T et al.

Disease Models & Mechanisms, 2021

Iron Overload Leading to Torsades de Pointes in β-Thalassemia and Long QT Syndrome.

Refaat MM et al.

Cardiac Electrophysiology Clinics, 2016

Assessment of microvolt T-wave alternans in high-risk patients with the congenital long-QT syndrome.

Schmitt J et al.

Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2009

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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."