Varaico: Literature-Extracted Genetic Variants

Gene:SLC46A1
Variant:p.Y315C
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SLC46A1

NM_080669.6:p.Y315C

Associated Papers

A proton-coupled folate transporter mutation causing hereditary folate malabsorption locks the protein in an inward-open conformation.

Zhan HQ et al.

The Journal of Biological Chemistry, 2020

Residues in the eighth transmembrane domain of the proton-coupled folate transporter (SLC46A1) play an important role in defining the aqueous translocation pathway and in folate substrate binding.

Aluri S et al.

Biochimica Et Biophysica Acta. Biomembranes, 2017

Identification of Tyr residues that enhance folate substrate binding and constrain oscillation of the proton-coupled folate transporter (PCFT-SLC46A1).

Visentin M et al.

American Journal of Physiology. Cell Physiology, 2015

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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."