Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A1
Variant:p.S46N
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SLC19A1

NM_194255.4:p.S46N

Associated Papers

Methotrexate recognition by the human reduced folate carrier SLC19A1.

Wright NJ et al.

Nature, 2022

Functional analysis of altered reduced folate carrier sequence changes identified in osteosarcomas.

Flintoff WF et al.

Biochimica Et Biophysica Acta, 2004

Residues 45 and 404 in the murine reduced folate carrier may interact to alter carrier binding and mobility.

Zhao R et al.

Biochimica Et Biophysica Acta, 2003

Reduced folate carrier: biochemistry and molecular biology of the normal and methotrexate-resistant cell.

Bosson G

British Journal of Biomedical Science, 2003

Role of the E45K-reduced folate carrier gene mutation in methotrexate resistance in human leukemia cells.

Gifford AJ et al.

Leukemia, 2002

A mutated murine reduced folate carrier (RFC1) with increased affinity for folic acid, decreased affinity for methotrexate, and an obligatory anion requirement for transport function.

Zhao R et al.

The Journal of Biological Chemistry, 1998

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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."