Varaico: Literature-Extracted Genetic Variants

Gene:UBE3A
Variant:p.C820S
Back to variants list

UBE3A

NM_001374461.1:p.C820S

Associated Papers

Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis.

Weston KP et al.

Nature Communications, 2021

Dual-isoform hUBE3A gene transfer improves behavioral and seizure outcomes in Angelman syndrome model mice.

Judson MC et al.

Jci Insight, 2021

Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome.

Avagliano Trezza R et al.

Nature Neuroscience, 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."