Varaico: Literature-Extracted Genetic Variants

Gene:TFR2
Variant:p.L745R
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TFR2

NM_003227.4:p.L745R

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

Recurrent BMP4 variants in exon 4 cause non-HFE-associated hemochromatosis via the BMP/SMAD signaling pathway.

Ouyang Q et al.

Orphanet Journal of Rare Diseases, 2024

DENND3 p.L708V activating variant is involved in the pathogenesis of hereditary hemochromatosis via the RAB12/TFR2 signaling pathway.

Li Y et al.

Hepatology International, 2023

Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants.

Lv T et al.

Journal of Medical Genetics, 2018

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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."