Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.P535T
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KCNQ1

NM_000218.3:p.P535T

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

Long QT syndrome type 1: clinical and functional characterization of KCNQ1 variant c.1111G > C.

Bileisiene N et al.

Bmc Cardiovascular Disorders, 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

Computational Study on Effect of KCNQ1 P535T Mutation in a Cardiac Ventricular Tissue.

Satish H et al.

The Journal of Membrane Biology, 2023

Structural Modelling of KCNQ1 and KCNH2 Double Mutant Proteins, Identified in Two Severe Long QT Syndrome Cases, Reveals New Insights into Cardiac Channelopathies.

Agudelo WA et al.

International Journal of Molecular Sciences, 2021

Compound Heterozygous KCNQ1 Mutations Causing Recessive Romano-Ward Syndrome: Functional Characterization by Mutant Co-expression.

González-Garrido A et al.

Frontiers in Cardiovascular Medicine, 2021

The Crossroad of Ion Channels and Calmodulin in Disease.

Urrutia J et al.

International Journal of Molecular Sciences, 2019

Compound heterozygous KCNQ1 mutations (A300T/P535T) in a child with sudden unexplained death: Insights into possible molecular mechanisms based on protein modeling.

Antúnez-Argüelles E et al.

Gene, 2017

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."