Varaico: Literature-Extracted Genetic Variants

Gene:SLC46A1
Variant:p.D109A
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SLC46A1

NM_080669.6:p.D109A

Associated Papers

Mechanistic insights into mutation in the proton-coupled folate transporter (SLC46A1) causing hereditary folate malabsorption.

Nandigrami P et al.

The Journal of Biological Chemistry, 2025

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

Substitutions that lock and unlock the proton-coupled folate transporter (PCFT-SLC46A1) in an inward-open conformation.

Aluri S et al.

The Journal of Biological Chemistry, 2019

Substituted cysteine accessibility reveals a novel transmembrane 2-3 reentrant loop and functional role for transmembrane domain 2 in the human proton-coupled folate transporter.

Wilson MR et al.

The Journal of Biological Chemistry, 2014

Functional roles of aspartate residues of the proton-coupled folate transporter (PCFT-SLC46A1); a D156Y mutation causing hereditary folate malabsorption.

Shin DS et al.

Blood, 2010

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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."