Varaico: Literature-Extracted Genetic Variants

Gene:ATP8B1
Variant:p.D454G
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ATP8B1

NM_001374385.1:p.D454G

Associated Papers

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

Dieudonné T et al.

Elife, 2022

Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.

Hegde RN et al.

Tissue & Cell, 2017

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

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

Phospholipid flippase activities and substrate specificities of human type IV P-type ATPases localized to the plasma membrane.

Takatsu H et al.

The Journal of Biological Chemistry, 2014

Intractable itch relieved by 4-phenylbutyrate therapy in patients with progressive familial intrahepatic cholestasis type 1.

Hasegawa Y et al.

Orphanet Journal of Rare Diseases, 2014

Mutation specific drug therapy for progressive familial or benign recurrent intrahepatic cholestasis: a new tool in a near future?

Gonzales E et al.

Journal of Hepatology, 2010

Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate.

van der Velden LM et al.

Hepatology (baltimore, Md.), 2010

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."