Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.V307_V308Splc
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KCNQ1

NM_000218.3:p.V307_V308Splc

Associated Papers

Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.

Dzhumaniiazova I et al.

Genes, 2025

41153446 (PubMed )
Supplement: genes-16-01228-s001.zip › genes-3881151-supplementary_tables.xlsx › S1

Increased L-type calcium current causes action potential prolongation in Jervell and Lange-Nielsen syndrome and is a drug target.

Wada Y et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 List.

Huang Y et al.

Journal of Personalized Medicine, 2022

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32893267 (PubMed )
Supplement: 41436_2020_946_MOESM2_ESM.xlsx › S4
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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."