Varaico: Literature-Extracted Genetic Variants

Gene:RPS27A
Variant:p.K89R
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RPS27A

NM_002954.6:p.K89R

Associated Papers

The pseudogene RPS27AP5 expresses ubiquitin and ribosomal protein variants with potential roles in ribosome function.

Meller A et al.

Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2025

A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer.

Kang JJ et al.

Human Genetics, 2016

How to tackle the diagnosis of limb-girdle muscular dystrophy 2A.

Fanin M et al.

European Journal of Human Genetics : Ejhg, 2009

Ubiquitin is conjugated by membrane ubiquitin ligase to three sites, including the N terminus, in transmembrane region of mammalian 3-hydroxy-3-methylglutaryl coenzyme A reductase: implications for sterol-regulated enzyme degradation.

Doolman R et al.

The Journal of Biological Chemistry, 2004

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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."