Varaico: Literature-Extracted Genetic Variants

Gene:SLC46A1
Variant:p.R114C
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SLC46A1

NM_080669.6:p.R114C

Associated Papers

Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study.

Tozkir H et al.

Genes, 2025

Experimentally optimized threading structures of the proton-coupled folate transporter.

Date SS et al.

Febs Open Bio, 2016

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

Vulnerability of the cysteine-less proton-coupled folate transporter (PCFT-SLC46A1) to mutational stress associated with the substituted cysteine accessibility method.

Zhao R et al.

Biochimica Et Biophysica Acta, 2011

A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption.

Meyer E et al.

Molecular Genetics and Metabolism, 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."