Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.P369S
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KCNQ1

NM_000218.3:p.P369S

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

Physical and functional interaction sites in cytoplasmic domains of KCNQ1 and KCNE1 channel subunits.

Chen J et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2020

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Cooper DN et al.

Human Genetics, 2013

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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."