Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.C282S
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HFE

NM_000410.4:p.C282S

Associated Papers

HFE gene: Structure, function, mutations, and associated iron abnormalities.

Barton JC et al.

Gene, 2015

The functional significance of E277K and V295A HFE mutations.

Silva B et al.

British Journal of Haematology, 2012

Genetic and metabolic factors are associated with increased hepatic iron stores in a selected population of p.Cys282Tyr heterozygotes.

Mariani R et al.

Blood Cells, Molecules & Diseases, 2010

The molecular genetics of haemochromatosis.

Le Gac G et al.

European Journal of Human Genetics : Ejhg, 2005

The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein.

Ka C et al.

Human Genetics, 2005

[Molecular basis in hereditary haemochromatosis].

Cadet E et al.

La Revue De Medecine Interne, 2005

A previously undescribed nonsense mutation of the HFE gene.

Beutler E et al.

Clinical Genetics, 2002

[Molecular genetics of hemochromatosis].

Rosmorduc O et al.

Journees Annuelles De Diabetologie De L'hotel-dieu, 2002

Differential HFE allele expression in hemochromatosis heterozygotes.

Rosmorduc O et al.

Gastroenterology, 2000

Hematologically important mutations: iron storage diseases.

Beutler L et al.

Blood Cells, Molecules & Diseases, 0

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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."