Varaico: Literature-Extracted Genetic Variants

Gene:UFC1
Variant:p.C116S
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UFC1

NM_016406.4:p.C116S

Associated Papers

Mechanistic insights into the roles of the UFM1 E3 ligase complex in ufmylation and ribosome-associated protein quality control.

Ishimura R et al.

Science Advances, 2023

A non-canonical scaffold-type E3 ligase complex mediates protein UFMylation.

Peter JJ et al.

The Embo Journal, 2022

The UFM1 Pathway Impacts HCMV US2-Mediated Degradation of HLA Class I.

Schuren ABC et al.

Molecules (basel, Switzerland), 2021

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.

Nahorski MS et al.

Brain : a Journal of Neurology, 2018

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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."