Varaico: Literature-Extracted Genetic Variants

Gene:RAB6A
Variant:p.Q72L
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RAB6A

NM_198896.2:p.Q72L

Associated Papers

Dominant spinal muscular atrophy linked mutations in the cargo binding domain of BICD2 result in altered interactomes and dynein hyperactivity.

Neiswender H et al.

Elife, 2025

Dominant spinal muscular atrophy linked mutations in the cargo binding domain of BICD2 result in altered interactomes and dynein hyperactivity.

Neiswender H et al.

Biorxiv : the Preprint Server for Biology, 2025

Molecular mechanism for recognition of the cargo adapter Rab6GTP by the dynein adapter BicD2.

Zhao X et al.

Life Science Alliance, 2024

Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies.

Unlu G et al.

Nature Medicine, 2020

Coupling fission and exit of RAB6 vesicles at Golgi hotspots through kinesin-myosin interactions.

Miserey-Lenkei S et al.

Nature Communications, 2017

Routing of the RAB6 secretory pathway towards the lysosome related organelle of melanocytes.

Patwardhan A et al.

Nature Communications, 2017

Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth.

Seifert W et al.

The Journal of Biological Chemistry, 2015

Recycling endosome tubule morphogenesis from sorting endosomes requires the kinesin motor KIF13A.

Delevoye C et al.

Cell Reports, 2014

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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."