Varaico: Literature-Extracted Genetic Variants

Gene:TFR2
Variant:p.F280L
Back to variants list

TFR2

NM_003227.4:p.F280L

Associated Papers

A Novel Mutation of Transferrin Receptor 2 in a Chinese Pedigree With Type 3 Hemochromatosis: A Case Report.

Tang S et al.

Frontiers in Genetics, 2022

35464850 (PubMed )
Supplement: DataSheet1.docx

New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.

Hernández G et al.

Genes, 2021

Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3.

Joshi R et al.

Molecular Genetics & Genomic Medicine, 2015

A novel rat model of hereditary hemochromatosis due to a mutation in transferrin receptor 2.

Bartnikas TB et al.

Comparative Medicine, 2013

Mutations in HFE and TFR2 genes in a Spanish patient with hemochromatosis.

Rueda Adel C et al.

Revista Espanola De Enfermedades Digestivas, 2011

Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes.

Mendes AI et al.

Annals of Hematology, 2009

TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy.

Radio FC et al.

Blood Cells, Molecules & Diseases, 0

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."