Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.E48E
Back to variants list

SCN5A

NM_000335.5:p.E48E

Associated Papers

Large-scale functional assessment of variants of the potassium channel Kir2.1: Clinical and comparative insights.

Anderson CL et al.

The Journal of Biological Chemistry, 2026

Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype.

Zhang L et al.

Circulation, 2005

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."