Varaico: Literature-Extracted Genetic Variants

Gene:COMMD1
Variant:p.K167E
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COMMD1

NM_152516.4:p.K167E

Associated Papers

Retromer retrieves the Wilson disease protein ATP7B from endolysosomes in a copper-dependent manner.

Das S et al.

Journal of Cell Science, 2020

COMMD1 and PtdIns(4,5)P2 interaction maintain ATP7B copper transporter trafficking fidelity in HepG2 cells.

Stewart DJ et al.

Journal of Cell Science, 2019

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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."