Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.D157N
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SLC40A1

NM_014585.6:p.D157N

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

Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis.

Majore S et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2018

Ferroportin disease: pathogenesis, diagnosis and treatment.

Pietrangelo A

Haematologica, 2017

Type 4B hereditary hemochromatosis associated with a novel mutation in the SLC40A1 gene: A case report and a review of the literature.

Zhang W et al.

Medicine, 2017

Pathophysiological consequences and benefits of HFE mutations: 20 years of research.

Hollerer I et al.

Haematologica, 2017

Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

Santos PCJL et al.

International Journal of Molecular Sciences, 2012

Non-HFE hemochromatosis.

Santos PC et al.

Revista Brasileira De Hematologia E Hemoterapia, 2012

Non-HFE hepatic iron overload.

Pietrangelo A et al.

Seminars in Liver Disease, 2011

Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.

Mayr R et al.

Journal of Hepatology, 2010

Human mutation D157G in ferroportin leads to hepcidin-independent binding of Jak2 and ferroportin down-regulation.

De Domenico I et al.

Blood, 2010

Novel mutations of the ferroportin gene (SLC40A1): analysis of 56 consecutive patients with unexplained iron overload.

Pelucchi S et al.

Clinical Genetics, 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."