Varaico: Literature-Extracted Genetic Variants

Gene:PHACTR1
Variant:p.R536P
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PHACTR1

NM_030948.6:p.R536P

Associated Papers

Neuroendocrine Control of Synaptic Transmission by PHAC-1 in C. elegans.

Stratigi A et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2025

Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia.

Marakhonov AV et al.

Clinical Genetics, 2021

Phactr1 regulates Slack (KCNT1) channels via protein phosphatase 1 (PP1).

Ali SR et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020

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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."