Varaico: Literature-Extracted Genetic Variants

Gene:ATP8B1
Variant:p.D454N
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ATP8B1

NM_001374385.1:p.D454N

Associated Papers

Autoinhibition and regulation by phosphoinositides of ATP8B1, a human lipid flippase associated with intrahepatic cholestatic disorders.

Dieudonné T et al.

Elife, 2022

CDC50 proteins are critical components of the human class-1 P4-ATPase transport machinery.

Bryde S et al.

The Journal of Biological Chemistry, 2010

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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."