Varaico: Literature-Extracted Genetic Variants

Gene:ATP11A
Variant:p.E186Q
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ATP11A

NM_015205.3:p.E186Q

Associated Papers

A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2.

Chepurwar S et al.

Human Molecular Genetics, 2023

Phosphatidylserine exposure modulates adhesion GPCR BAI1 (ADGRB1) signaling activity.

Lala T et al.

The Journal of Biological Chemistry, 2022

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

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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."