Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.F293C
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SLC6A1

NM_003042.4:p.F293C

Associated Papers

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.

Stefanski A et al.

Brain : a Journal of Neurology, 2023

37647852 (PubMed )
Supplement: awad292_supplementary_data.zip › brain-2022-02416-File005.xlsx › GnomAD_variants

The substrates of the gamma-aminobutyric acid transporter GAT-1 induce structural rearrangements around the interface of transmembrane domains 1 and 6.

Rosenberg A et al.

The Journal of Biological Chemistry, 2008

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