Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A3
Variant:p.K619N
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SLC6A3

NM_001044.5:p.K619N

Associated Papers

Mouse model of atypical DAT deficiency syndrome uncovers dopamine dysfunction associated with parkinsonism and ADHD.

Herborg F et al.

The Journal of Clinical Investigation, 2026

Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.

Mok JW et al.

Genome Research, 2025

40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1

The Ins and Outs of Dopamine Transporter Gene Manipulation: In Vivo Models of DAT Dysfunction.

Stewart A et al.

Advances in Neurobiology, 2025

Variant functional assessment in Drosophila by overexpression: what can we learn?

Her Y et al.

Genome, 2024

The dopamine transporter gene SLC6A3: multidisease risks.

Reith MEA et al.

Molecular Psychiatry, 2022

Identifying dominant-negative actions of a dopamine transporter variant in patients with parkinsonism and neuropsychiatric disease.

Herborg F et al.

Jci Insight, 2021

Genetic targeting of the amphetamine and methylphenidate-sensitive dopamine transporter: on the path to an animal model of attention-deficit hyperactivity disorder.

Mergy MA et al.

Neurochemistry International, 2014

Missense dopamine transporter mutations associate with adult parkinsonism and ADHD.

Hansen FH et al.

The Journal of Clinical Investigation, 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."