Varaico: Literature-Extracted Genetic Variants

Gene:SLC46A1
Variant:p.R113H
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SLC46A1

NM_080669.6:p.R113H

Associated Papers

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

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

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

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

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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."