Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.R594P
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KCNQ1

NM_000218.3:p.R594P

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

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

Increased risk of kidney failure in patients with genetic kidney disorders.

Elliott MD et al.

The Journal of Clinical Investigation, 2024

39225089 (PubMed )
Supplement: jci-134-178573-s022.xlsx › Sheet_1

Effects of protein-protein interactions and ligand binding on the ion permeation in KCNQ1 potassium channel.

Jalily Hasani H et al.

Plos One, 2018

29444113 (PubMed )
Supplement: pone.0191905.s001.pdf

Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity.

Giudicessi JR et al.

Circulation. Cardiovascular Genetics, 2013

Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases.

Miller TE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007

Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families.

Zafari Z et al.

Journal of Electrocardiology, 0

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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."