Varaico: Literature-Extracted Genetic Variants

Gene:RAB27A
Variant:p.T23N
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RAB27A

NM_183235.3:p.T23N

Associated Papers

The RAB27A effector SYTL5 regulates mitophagy and mitochondrial metabolism.

Lapão A et al.

Elife, 2025

Novel RAB27A Variant Associated with Late-Onset Hemophagocytic Lymphohistiocytosis Alters Effector Protein Binding.

Zondag TCE et al.

Journal of Clinical Immunology, 2022

Versatile role of Rab27 in membrane trafficking: focus on the Rab27 effector families.

Fukuda M

Journal of Biochemistry, 2005

Rabphilin and Noc2 are recruited to dense-core vesicles through specific interaction with Rab27A in PC12 cells.

Fukuda M et al.

The Journal of Biological Chemistry, 2004

Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients.

Menasche G et al.

Blood, 2003

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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."