Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.E115A
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KCNQ1

NM_000218.3:p.E115A

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

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

Molecular determinants of Kv7.1/KCNE1 channel inhibition by amitriptyline.

Villatoro-Gómez K et al.

Biochemical Pharmacology, 2018

KCNE1 induces fenestration in the Kv7.1/KCNE1 channel complex that allows for highly specific pharmacological targeting.

Wrobel E et al.

Nature Communications, 2016

Molecular determinants of KCNQ1 channel block by a benzodiazepine.

Seebohm G et al.

Molecular Pharmacology, 2003

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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."