Varaico: Literature-Extracted Genetic Variants

Gene:PTDSS1
Variant:p.E212A
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PTDSS1

NM_014754.3:p.E212A

Associated Papers

Molecular insights into human phosphatidylserine synthase 1 reveal its inhibition promotes LDL uptake.

Long T et al.

Cell, 2024

Last step in the path of LDL cholesterol from lysosome to plasma membrane to ER is governed by phosphatidylserine.

Trinh MN et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

Functional analysis of Chinese hamster phosphatidylserine synthase 1 through systematic alanine mutagenesis.

Ohsawa T et al.

The Biochemical Journal, 2004

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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."