Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPE65

Variant:p.R91insFs

Back to variants list

RPE65

NM_000329.3:p.R91insFs

hg38:chr1:68444854 G>GC

Associated Papers

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals.

Van Vooren E et al.

Investigative Ophthalmology & Visual Science, 2025

40985799 (PubMed )

Supplement: iovs-66-12-53_s001.docx

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."