Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.S209P
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KCNQ1

NM_000218.3:p.S209P

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

Generation of an induced pluripotent stem cell line from patient with atrial fibrillation with KCNQ1 p.Ser209Pro mutation.

Cen Y et al.

Stem Cell Research, 2024

Predicting the functional impact of KCNQ1 variants with artificial neural networks.

Phul S et al.

Plos Computational Biology, 2022

35442947 (PubMed )
Supplement: pcbi.1010038.s010.xlsx › Missense_Mutations

Inherited and Acquired Rhythm Disturbances in Sick Sinus Syndrome, Brugada Syndrome, and Atrial Fibrillation: Lessons from Preclinical Modeling.

Iop L et al.

Cells, 2021

KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine.

Streeten EA et al.

Circulation. Genomic and Precision Medicine, 2020

33141630 (PubMed )
Supplement: hcg-13-e003133-s002.xls › Supplemental_Table_9.

A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants.

Kernik DC et al.

Plos Computational Biology, 2020

Compound and heterozygous mutations of KCNQ1 in long QT syndrome with familial history of unexplained sudden death: Identified by analysis of whole exome sequencing and predisposing genes.

Lin Y et al.

Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2020

High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance.

Vanoye CG et al.

Circulation. Genomic and Precision Medicine, 2018

Cardiac Delayed Rectifier Potassium Channels in Health and Disease.

Chen L et al.

Cardiac Electrophysiology Clinics, 2016

Characterization of a Chinese KCNQ1 mutation (R259H) that shortens repolarization and causes short QT syndrome 2.

Wu ZJ et al.

Journal of Geriatric Cardiology : Jgc, 2015

Recent molecular insights from mutated IKS channels in cardiac arrhythmia.

Dvir M et al.

Current Opinion in Pharmacology, 2014

A KCNQ1 mutation causes age-dependant bradycardia and persistent atrial fibrillation.

Ki CS et al.

Pflugers Archiv : European Journal of Physiology, 2014

A novel KCNQ1 missense mutation identified in a patient with juvenile-onset atrial fibrillation causes constitutively open IKs channels.

Hasegawa K et al.

Heart Rhythm, 2014

[KCNQ1 mutation in patients with lone atrial fibrillation].

Feng MJ et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 2013

Polymorphisms but not mutations of the KCNQ1 gene are associated with lone atrial fibrillation in the Chinese Han population.

Chu HM et al.

Thescientificworldjournal, 2013

Overlapping cardiac phenotype associated with a familial mutation in the voltage sensor of the KCNQ1 channel.

Henrion U et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2012

Monogenic atrial fibrillation as pathophysiological paradigms.

Mahida S et al.

Cardiovascular Research, 2011

The S140G KCNQ1 atrial fibrillation mutation affects 'I(KS)' profile during both atrial and ventricular action potentials.

El Harchi A et al.

Journal of Physiology and Pharmacology : an Official Journal of the Polish Physiological Society, 2010

Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit of IKs.

Eldstrom J et al.

The Journal of General Physiology, 2010

Mutation in the S3 segment of KCNQ1 results in familial lone atrial fibrillation.

Das S et al.

Heart Rhythm, 2009

A novel KCNQ1 variant (L203P) associated with torsades de pointes-related syncope in a Steinert syndrome patient.

Patoine D et al.

The Canadian Journal of Cardiology, 0

In silico investigation of a KCNQ1 mutation associated with familial atrial fibrillation.

Hancox JC et al.

Journal of Electrocardiology, 0

Disease-linked supertrafficking of a potassium channel.

Huang H et al.

The Journal of Biological Chemistry, 0

33600800 (PubMed )
Supplement: mmc1.pdf
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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."