Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.K421E
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KCNQ1

NM_000218.3:p.K421E

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

Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants.

Rinné S et al.

International Journal of Molecular Sciences, 2023

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

Reclassification of genetic variants in children with long QT syndrome.

Westphal DS et al.

Molecular Genetics & Genomic Medicine, 2020

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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."