Varaico: Literature-Extracted Genetic Variants

Gene:TFR2
Variant:p.R30insFs
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TFR2

NM_003227.4:p.R30insFs

Associated Papers

The landscape of hereditary haemochromatosis risk and diagnosis across the British Isles and Ireland.

Kerr SM et al.

Nature Communications, 2026

41633988 (PubMed )
Supplement: 41467_2025_65511_MOESM3_ESM.xlsx › Sheet1

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

Joshi R et al.

Molecular Genetics & Genomic Medicine, 2015

26029709 (PubMed )
Supplement: mgg30003-0221-sd1.docx

Non-HFE hepatic iron overload.

Pietrangelo A et al.

Seminars in Liver Disease, 2011

Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis.

Koyama C et al.

Haematologica, 2005

New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.

Roetto A et al.

Blood, 2001

Hematologically important mutations: iron storage diseases.

Beutler L et al.

Blood Cells, Molecules & Diseases, 0

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

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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."