Varaico: Literature-Extracted Genetic Variants

Gene:UBE2O
Variant:p.K689R
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UBE2O

NM_022066.4:p.K689R

Associated Papers

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

Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosis.

Zhang W et al.

Orphanet Journal of Rare Diseases, 2022

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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."