Varaico: Literature-Extracted Genetic Variants

Gene:ATOX1
Variant:p.H4Q
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ATOX1

NM_004045.4:p.H4Q

Associated Papers

In-silico analysis of novel p.(Gly14Ser) variant of ATOX1 gene: plausible role in modulating ATOX1-ATP7B interaction.

Kumari N et al.

Molecular Biology Reports, 2019

Characterization of the interaction between the Wilson and Menkes disease proteins and the cytoplasmic copper chaperone, HAH1p.

Larin D et al.

The Journal of Biological Chemistry, 1999

HAH1 is a copper-binding protein with distinct amino acid residues mediating copper homeostasis and antioxidant defense.

Hung IH et al.

The Journal of Biological Chemistry, 1998

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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."