Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A3
Variant:p.D801H
Back to variants list

ATP1A3

NM_152296.5:p.D801H

Associated Papers

ATP1A3-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia.

Moya-Mendez ME et al.

Journal of the American Heart Association, 2021

Early role for a Na+,K+-ATPase (ATP1A3) in brain development.

Smith RS et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

34161264 (PubMed )
Supplement: pnas.2023333118.sapp.pdf

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.

Sun M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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."