Varaico: Literature-Extracted Genetic Variants

Gene:USP48
Variant:p.C98S
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USP48

NM_032236.8:p.C98S

Associated Papers

EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.

Barbeito P et al.

Frontiers in Cell and Developmental Biology, 2023

The Deubiquitinating Enzyme USP48 Interacts with the Retinal Degeneration-Associated Proteins UNC119a and ARL3.

Sánchez-Bellver L et al.

International Journal of Molecular Sciences, 2022

Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.

Bassani S et al.

Human Molecular Genetics, 2021

USP48 Governs Cell Cycle Progression by Regulating the Protein Level of Aurora B.

Antao AM et al.

International Journal of Molecular Sciences, 2021

Map of synthetic rescue interactions for the Fanconi anemia DNA repair pathway identifies USP48.

Velimezi G et al.

Nature Communications, 2018

USP48 restrains resection by site-specific cleavage of the BRCA1 ubiquitin mark from H2A.

Uckelmann M et al.

Nature Communications, 2018

Ubiquitin-specific peptidase 48 regulates Mdm2 protein levels independent of its deubiquitinase activity.

Cetkovská K et al.

Scientific Reports, 2017

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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."