Varaico: Literature-Extracted Genetic Variants

Gene:SLC46A1
Variant:p.S318R
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SLC46A1

NM_080669.6:p.S318R

Associated Papers

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

Narawa T et al.

Drug Metabolism and Pharmacokinetics, 2021

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

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

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

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-

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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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."