Varaico: Literature-Extracted Genetic Variants

Gene:SLC46A1
Variant:p.P425R
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SLC46A1

NM_080669.6:p.P425R

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

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

The evolving biology of the proton-coupled folate transporter: New insights into regulation, structure, and mechanism.

Hou Z et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2022

Functional role of serine 318 of the proton-coupled folate transporter in methotrexate transport.

Narawa T et al.

Drug Metabolism and Pharmacokinetics, 2021

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

A deep intronic mutation of c.1166-285 T > G in SLC46A1 is shared by four unrelated Japanese patients with hereditary folate malabsorption (HFM).

Tozawa Y et al.

Clinical Immunology (orlando, Fla.), 2019

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

Hereditary folate malabsorption due to a mutation in the external gate of the proton-coupled folate transporter SLC46A1.

Aluri S et al.

Blood Advances, 2018

The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption.

Zhao R et al.

Molecular Aspects of Medicine, 2017

Structural determinants of human proton-coupled folate transporter oligomerization: role of GXXXG motifs and identification of oligomeric interfaces at transmembrane domains 3 and 6.

Wilson MR et al.

The Biochemical Journal, 2015

The major facilitative folate transporters solute carrier 19A1 and solute carrier 46A1: biology and role in antifolate chemotherapy of cancer.

Matherly LH et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2014

Biology of the major facilitative folate transporters SLC19A1 and SLC46A1.

Hou Z et al.

Current Topics in Membranes, 2014

The human proton-coupled folate transporter: Biology and therapeutic applications to cancer.

Desmoulin SK et al.

Cancer Biology & Therapy, 2012

Functional roles of the A335 and G338 residues of the proton-coupled folate transporter (PCFT-SLC46A1) mutated in hereditary folate malabsorption.

Shin DS et al.

American Journal of Physiology. Cell Physiology, 2012

Identification of a functionally critical GXXG motif and its relationship to the folate binding site of the proton-coupled folate transporter (PCFT-SLC46A1).

Zhao R et al.

American Journal of Physiology. Cell Physiology, 2012

A P425R mutation of the proton-coupled folate transporter causing hereditary folate malabsorption produces a highly selective alteration in folate binding.

Shin DS et al.

American Journal of Physiology. Cell Physiology, 2012

Identification and functional impact of homo-oligomers of the human proton-coupled folate transporter.

Hou Z et al.

The Journal of Biological Chemistry, 2012

Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico.

Mahadeo KM et al.

The Journal of Pediatrics, 2011

Random mutagenesis of the proton-coupled folate transporter (SLC46A1), clustering of mutations, and the bases for associated losses of function.

Zhao R et al.

The Journal of Biological Chemistry, 2011

Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption.

Shin DS et al.

Molecular Genetics and Metabolism, 2011

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

Meyer E et al.

Molecular Genetics and Metabolism, 2010

Apical membrane targeting and trafficking of the human proton-coupled transporter in polarized epithelia.

Subramanian VS et al.

American Journal of Physiology. Cell Physiology, 2008

The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption.

Zhao R et al.

Blood, 2007

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