Varaico: Literature-Extracted Genetic Variants

Gene:SLC18A2
Variant:p.P316A
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SLC18A2

NM_003054.6:p.P316A

Associated Papers

SLC18A2 associated infantile-onset- parkinsonism-dystonia 2: A novel genotype.

Janardhanan A et al.

Parkinsonism & Related Disorders, 2025

Tricyclic and tetracyclic antidepressants upregulate VMAT2 activity and rescue disease-causing VMAT2 variants.

Wang X et al.

Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology, 2024

39060436 (PubMed )
Supplement: 41386_2024_1914_MOESM1_ESM.docx

Structural mechanisms for VMAT2 inhibition by tetrabenazine.

Dalton MP et al.

Elife, 2024

Structural mechanisms for VMAT2 inhibition by tetrabenazine.

Dalton MP et al.

Biorxiv : the Preprint Server for Biology, 2024

Mechanisms of neurotransmitter transport and drug inhibition in human VMAT2.

Pidathala S et al.

Nature, 2023

Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.

Bhat S et al.

Pharmacology & Therapeutics, 2021

A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets.

Padmakumar M et al.

Jimd Reports, 2019

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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."