Varaico: Literature-Extracted Genetic Variants

Gene:SLC46A1
Variant:p.R113C
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SLC46A1

NM_080669.6:p.R113C

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

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

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

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

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

Desmoulin SK et al.

Cancer Biology & Therapy, 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

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

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

Mutation of the proton-coupled folate transporter gene (PCFT-SLC46A1) in Turkish siblings with hereditary folate malabsorption.

Atabay B et al.

Pediatric Hematology and Oncology, 2010

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

Meyer E et al.

Molecular Genetics and Metabolism, 2010

Hereditary folate malabsorption: a positively charged amino acid at position 113 of the proton-coupled folate transporter (PCFT/SLC46A1) is required for folic acid binding.

Lasry I et al.

Biochemical and Biophysical Research Communications, 2009

A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function.

Lasry I et al.

Blood, 2008

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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."