Varaico: Literature-Extracted Genetic Variants

Gene:UBE3C
Variant:p.S845F
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UBE3C

NM_014671.3:p.S845F

Associated Papers

Redefining the catalytic HECT domain boundaries for the HECT E3 ubiquitin ligase family.

Kane EI et al.

Bioscience Reports, 2022

Molecular Evolution, Neurodevelopmental Roles and Clinical Significance of HECT-Type UBE3 E3 Ubiquitin Ligases.

Ambrozkiewicz MC et al.

Cells, 2020

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

29491882 (PubMed )
Supplement: Table1.xlsx › Sheet1

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

O'Roak BJ et al.

Nature, 2012

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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."