Varaico: Literature-Extracted Genetic Variants

Gene:UBE2A
Variant:p.Q93E
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UBE2A

NM_003336.4:p.Q93E

Associated Papers

Mutations of Rad6 E2 ubiquitin-conjugating enzymes at alanine-126 in helix-3 affect ubiquitination activity and decrease enzyme stability.

Shukla PK et al.

The Journal of Biological Chemistry, 2022

A novel missense mutation in the UBE2A gene causes intellectual disability in the large X-linked family.

Arslan Satılmış SB et al.

The Journal of Gene Medicine, 2021

Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability.

de Oliveira JF et al.

Nature Chemical Biology, 2019

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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."