Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.R366P
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KCNQ1

NM_000218.3:p.R366P

Associated Papers

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 analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

A unique mechanism of inactivation gating of the Kv channel family member Kv7.1 and its modulation by PIP2 and calmodulin.

Lipinsky M et al.

Science Advances, 2020

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

Brewer KR et al.

Frontiers in Pharmacology, 2020

Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients.

Shimizu W et al.

Jama Cardiology, 2019

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

Calmodulin is essential for cardiac IKS channel gating and assembly: impaired function in long-QT mutations.

Shamgar L et al.

Circulation Research, 2006

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

Splawski I et al.

Circulation, 2000

[Hypokalemia, ventricular arrhythmia, ion channel defects, etc. Re: Conn syndrome and severe arrhythmia].

Novotný T et al.

Vnitrni Lekarstvi, 1999

Ion channel defects in cardiac arrhythmia.

Kirsch GE

The Journal of Membrane Biology, 1999

Molecular genetics of inherited long QT syndromes.

Geelen JL et al.

European Heart Journal, 1998

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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."