Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.L114P
Back to variants list

SCN5A

NM_000335.5:p.L114P

Associated Papers

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

Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.

Huang H et al.

Science Advances, 2018

Molecular Pathophysiology of Congenital Long QT Syndrome.

Bohnen MS et al.

Physiological Reviews, 2017

Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations.

Leong IU et al.

Bmc Medical Genetics, 2015

25967940 (PubMed )
Supplement: 12881_2015_176_MOESM1_ESM.xlsx › KCNQ1_All

A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system.

Allegue C et al.

Electrophoresis, 2010

DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.

Jongbloed R et al.

Human Mutation, 2002

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."