Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.S277P
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KCNQ1

NM_000218.3:p.S277P

Associated Papers

Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review.

Li Y et al.

Channels (austin, Tex.), 2022

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

Brewer KR et al.

Frontiers in Pharmacology, 2020

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

A dual mechanism for I(Ks) current reduction by the pathogenic mutation KCNQ1-S277L.

Chen J et al.

Pacing and Clinical Electrophysiology : Pace, 2011

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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."