Varaico: Literature-Extracted Genetic Variants

Gene:HMOX1
Variant:p.G139V
Back to variants list

HMOX1

NM_002133.3:p.G139V

Associated Papers

Computational screening of pathogenic missense nsSNPs in heme oxygenase 1 (HMOX1) gene and their structural and functional consequences.

Yadav AK et al.

Journal of Biomolecular Structure & Dynamics, 2024

Clinical and molecular analysis of a novel variant in heme oxygenase-1 deficiency: Unraveling its role in inflammation, heme metabolism, and pulmonary phenotype.

Berendes LS et al.

Molecular Genetics and Metabolism Reports, 2024

Heme oxygenase-1 deficiency as an extremely rare cause of AA-type renal amyloidosis: Expanding the clinical features and review of the literature.

Dirim AB et al.

Clinical Rheumatology, 2023

Heme Oxygenase-1 Deficiency and Oxidative Stress: A Review of 9 Independent Human Cases and Animal Models.

Yachie A

International Journal of Molecular Sciences, 2021

Post-mortem Diagnosis of Heme Oxygenase-1 Deficiency by Whole Exome Sequencing in an Iranian Child.

Tahghighi F et al.

International Journal of Molecular and Cellular Medicine, 2019

Mutating heme oxygenase-1 into a peroxidase causes a defect in bilirubin synthesis associated with microcytic anemia and severe hyperinflammation.

Greil J et al.

Haematologica, 2016

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."