Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.L183P
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HFE

NM_000410.4:p.L183P

Associated Papers

Computational analysis and molecular dynamics insights into deleterious SNPs of the HFE gene.

Islam MS et al.

Journal of Biomolecular Structure & Dynamics, 2025

The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data.

Wallace DF et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

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

Barton JC et al.

Gene, 2015

Compound heterozygous C282Y/Q283P and Q283P/H63D mutations in haemochromatosis.

van Gammeren A et al.

British Journal of Haematology, 2015

Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

Santos PCJL et al.

International Journal of Molecular Sciences, 2012

Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.

Aguilar-Martinez P et al.

Haematologica, 2011

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

A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patients.

Swinkels DW 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."