Varaico: Literature-Extracted Genetic Variants

Gene:RAB27A
Variant:p.Q78L
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RAB27A

NM_183235.3:p.Q78L

Associated Papers

The RAB27A effector SYTL5 regulates mitophagy and mitochondrial metabolism.

Lapão A et al.

Elife, 2025

Molecular requirements for mammalian crinophagy highlight a key role for Ca2+-dependent Munc13-4.

Mani M et al.

Research Square, 2025

Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A).

Brauer N et al.

Frontiers in Immunology, 2023

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

Zondag TCE et al.

Journal of Clinical Immunology, 2022

Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector Engagement.

Ohishi Y et al.

Frontiers in Immunology, 2020

Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding.

Cetica V et al.

The Journal of Allergy and Clinical Immunology, 2015

Structural basis for the exclusive specificity of Slac2-a/melanophilin for the Rab27 GTPases.

Kukimoto-Niino M et al.

Structure (london, England : 1993), 2008

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

Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome.

Bahadoran P et al.

The Journal of Biological Chemistry, 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."