Varaico: Literature-Extracted Genetic Variants

Gene:SCAMP5
Variant:p.R91W
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SCAMP5

NM_138967.4:p.R91W

Associated Papers

SCAMP5 regulates AP-4-dependent sorting and trafficking of ATG9A for presynaptic autophagy via PI4KB/PI4KIIIβ recruitment and PtdInsP4 production at the TGN.

Ryu SH et al.

Autophagy, 2025

Deficiency of SCAMP5 causes Parkinson's disease due to loss of dopamine neurons.

Liu H et al.

Human Genetics, 2025

Secretory carrier-associated membrane protein 5 regulates cell-surface targeting of T-type calcium channels.

Mustafá ER et al.

Channels (austin, Tex.), 2023

Presynaptic dysfunction in neurodevelopmental disorders: Insights from the synaptic vesicle life cycle.

Bonnycastle K et al.

Journal of Neurochemistry, 2021

Deficiency of SCAMP5 leads to pediatric epilepsy and dysregulation of neurotransmitter release in the brain.

Zhang D et al.

Human Genetics, 2020

Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay.

Jiao X et al.

Frontiers in Pharmacology, 2020

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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."