Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.T309I
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KCNQ1

NM_000218.3:p.T309I

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

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

The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.

Yanus GA et al.

International Journal of Molecular Sciences, 2024

39273284 (PubMed )
Supplement: ijms-25-09335-s001.zip › ijms-3137350-supplementary.pdf

Author Correction: Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation.

Synková I et al.

Scientific Reports, 2021

Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation.

Synková I et al.

Scientific Reports, 2021

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Brewer KR et al.

Frontiers in Pharmacology, 2020

Mutation Analysis of KCNQ1, KCNH2 and SCN5A Genes in Taiwanese Long QT Syndrome Patients.

Chang YS et al.

International Heart Journal, 2015

The genetic basis of long QT and short QT syndromes: a mutation update.

Hedley PL et al.

Human Mutation, 2009

Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome.

Haruna Y et al.

Human Mutation, 2007

Occurrence of notched T wave in healthy family members with the long QT interval syndrome.

Novotny T et al.

The American Journal of Cardiology, 2004

Linkage and mutation analysis in two Taiwanese families with long QT syndrome.

Ko YL et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2001

Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing.

Andrsova I 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."