Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADCY5

Variant:p.D1060del1

Back to variants list

ADCY5

NM_183357.3:p.D1060del1

hg38:chr3:123291257 CTCA>C

Associated Papers

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

Quazza F et al.

Parkinsonism & Related Disorders, 2025

39908726 (PubMed )

ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.

Douglas AG et al.

Neurogenetics, 2017

28229249 (PubMed )

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."