Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.W68S
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SLC6A1

NM_003042.4:p.W68S

Associated Papers

Comprehensive genomic analysis of refractory multiple myeloma reveals a complex mutational landscape associated with drug resistance and novel therapeutic vulnerabilities.

Giesen N et al.

Haematologica, 2022

35045690 (PubMed )
Supplement: 2021_279360_GIESEN_TABS2_SUPPL.xlsx › somatic_small_functional_varian

The aqueous accessibility in the external half of transmembrane domain I of the GABA transporter GAT-1 Is modulated by its ligands.

Zhou Y et al.

The Journal of Biological Chemistry, 2004

Topological localization of cysteine 74 in the GABA transporter, GAT1, and its importance in ion binding and permeation.

Yu N et al.

Febs Letters, 1998

Identification of tryptophan residues critical for the function and targeting of the gamma-aminobutyric acid transporter (subtype A).

Kleinberger-Doron N et al.

The Journal of Biological Chemistry, 1994

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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."