Varaico: Literature-Extracted Genetic Variants

Gene:GBA2
Variant:p.P415R
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GBA2

NM_020944.3:p.P415R

Associated Papers

A versatile fluorescence-quenched substrate for quantitative measurement of glucocerebrosidase activity within live cells.

Deen MC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

The non-lysosomal β-glucosidase GBA2 is a non-integral membrane-associated protein at the endoplasmic reticulum (ER) and Golgi.

Körschen HG et al.

The Journal of Biological Chemistry, 2013

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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."