Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.D157Y
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SLC40A1

NM_014585.6:p.D157Y

Associated Papers

Identification of New Key Players for Ferrous Iron Export in the Asymmetric Inner Gate of Human Ferroportin 1.

Le Tertre M et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025

The Spectra of Disease-Causing Mutations in the Ferroportin 1 (SLC40A1) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease).

Uguen K et al.

Human Mutation, 2023

Molecular model of the ferroportin intracellular gate and implications for the human iron transport cycle and hemochromatosis type 4A.

Guellec J et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019

Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features.

Vlasveld LT et al.

Pharmaceuticals (basel, Switzerland), 2019

Ferroportin disease mutations influence manganese accumulation and cytotoxicity.

Choi EK et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019

Ferroportin disease: pathogenesis, diagnosis and treatment.

Pietrangelo A

Haematologica, 2017

Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.

Callebaut I et al.

Human Molecular Genetics, 2014

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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."