Varaico: Literature-Extracted Genetic Variants

Gene:ADCY5
Variant:p.P399L
Back to variants list

ADCY5

NM_183357.3:p.P399L

Associated Papers

Atypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystonia.

Quazza F et al.

Parkinsonism & Related Disorders, 2025

Structure of adenylyl cyclase 5 in complex with Gβγ offers insights into ADCY5-related dyskinesia.

Yen YC et al.

Nature Structural & Molecular Biology, 2024

Isoform Specific Regulation of Adenylyl Cyclase 5 by Gβγ.

Yen YC et al.

Biorxiv : the Preprint Server for Biology, 2023

ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.

Douglas AG et al.

Neurogenetics, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."