Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.R54C
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UBC

NM_021009.7:p.R54C

Associated Papers

Protein Aggregation and Cataract: Role of Age-Related Modifications and Mutations in α-Crystallins.

Budnar P et al.

Biochemistry. Biokhimiia, 2022

Mutations in human αA-crystallin/sHSP affect subunit exchange interaction with αB-crystallin.

Raju I et al.

Plos One, 2012

Natural mutations of the anti-Mullerian hormone type II receptor found in persistent Mullerian duct syndrome affect ligand binding, signal transduction and cellular transport.

Belville C et al.

Human Molecular Genetics, 2009

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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."