Varaico: Literature-Extracted Genetic Variants

Gene:ATP8B1
Variant:p.S453Y
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ATP8B1

NM_001374385.1:p.S453Y

Associated Papers

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

Dieudonné T et al.

Elife, 2022

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease

Biochemical characterization of P4-ATPase mutations identified in patients with progressive familial intrahepatic cholestasis.

Stone A et al.

The Journal of Biological Chemistry, 2012

Characterization of mutations in ATP8B1 associated with hereditary cholestasis.

Klomp LW et al.

Hepatology (baltimore, Md.), 2004

Enigmatic functions of ATP8B1: cholestasis, inflammation, phosphoinositide flipping, and cellular homeostasis.

Prince A et al.

Cell Cycle (georgetown, Tex.), 0

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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."