Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.G314C
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KCNQ1

NM_000218.3:p.G314C

Associated Papers

Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, and CALM1.

Akgun-Dogan O et al.

Journal of Cardiovascular Electrophysiology, 2022

Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss.

Kojima T et al.

Disease Models & Mechanisms, 2021

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

Brewer KR et al.

Frontiers in Pharmacology, 2020

Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.

Dehghani-Samani A et al.

Acta Cardiologica Sinica, 2019

A novel mutation KCNQ1p.Thr312del is responsible for long QT syndrome type 1.

Chen XM et al.

Heart and Vessels, 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

KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death.

Chen S et al.

Clinical Genetics, 2003

Genotype and clinical characteristics of congenital long QT syndrome in Thailand.

Saprungruang A et al.

Indian Pacing and Electrophysiology Journal, 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."