Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.R224Q
Back to variants list

HFE

NM_000410.4:p.R224Q

Associated Papers

TFR2 p.A75V mutation aggravates liver iron overload in alcoholic liver disease via ERK pathway.

Xie C et al.

Journal of Molecular Medicine (berlin, Germany), 2026

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

Recent advances in understanding haemochromatosis: a transition state.

Robson KJ et al.

Journal of Medical Genetics, 2004

Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload.

Biasiotto G et al.

Clinical Chemistry, 2003

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."