Varaico: Literature-Extracted Genetic Variants

Gene:SLC46A1
Variant:p.D156Y
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SLC46A1

NM_080669.6:p.D156Y

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 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 and cross-linking identify an exofacial cleft in the 7th and 8th helices of the proton-coupled folate transporter (SLC46A1).

Aluri S et al.

American Journal of Physiology. Cell Physiology, 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

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

Reversible pancytopenia and immunodeficiency in a patient with hereditary folate malabsorption.

Erlacher M et al.

Pediatric Blood & Cancer, 2015

Role of the fourth transmembrane domain in proton-coupled folate transporter function as assessed by the substituted cysteine accessibility method.

Shin DS et al.

American Journal of Physiology. Cell Physiology, 2013

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

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."