Varaico: Literature-Extracted Genetic Variants

Gene:LRP2
Variant:p.Q79L
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LRP2

NM_004525.3:p.Q79L

Associated Papers

Proton-activated chloride channel PAC regulates endosomal acidification and transferrin receptor-mediated endocytosis.

Osei-Owusu J et al.

Cell Reports, 2021

ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells.

Günther W et al.

Proceedings of the National Academy of Sciences of the United States of America, 1998

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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."