Varaico: Literature-Extracted Genetic Variants

Gene:RAB9A
Variant:p.Q66L
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RAB9A

NM_004251.5:p.Q66L

Associated Papers

Cryo-EM structure of the BLOC-3 complex provides insights into the pathogenesis of Hermansky-Pudlak syndrome.

Yong X et al.

Nature Communications, 2025

RAB7L1-Mediated Relocalization of LRRK2 to the Golgi Complex Causes Centrosomal Deficits via RAB8A.

Madero-Pérez J et al.

Frontiers in Molecular Neuroscience, 2018

Rab9A is required for delivery of cargo from recycling endosomes to melanosomes.

Mahanty S et al.

Pigment Cell & Melanoma Research, 2016

RUTBC2 protein, a Rab9A effector and GTPase-activating protein for Rab36.

Nottingham RM et al.

The Journal of Biological Chemistry, 2012

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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."