Varaico: Literature-Extracted Genetic Variants

Gene:UBE3A
Variant:p.H274N
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UBE3A

NM_001374461.1:p.H274N

Associated Papers

A luminescence-based biosensor to measure endogenous UBE3A activity.

Xing L et al.

Iscience, 2025

The gain-of-function UBE3AQ588E variant causes Angelman-like neurodevelopmental phenotypes in mice.

Weston KP et al.

Scientific Reports, 2025

Autism-linked UBE3A gain-of-function mutation causes interneuron and behavioral phenotypes when inherited maternally or paternally in mice.

Xing L et al.

Cell Reports, 2023

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

Weston KP et al.

Nature Communications, 2021

An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A.

Yi JJ et al.

Cell, 2015

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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."