Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AP1S1

Variant:p.E144delFs

Back to variants list

AP1S1

NM_001283.5:p.E144delFs

hg38:chr7:101160517 AG>A

Associated Papers

Clinical and Genetic Functional Validation of a Novel AP1S1 Mutation Causing MEDNIK Syndrome.

Duan L et al.

International Journal of Genomics, 2025

40901618 (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."