Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.L38I
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RPE65

NM_000329.3:p.L38I

Associated Papers

Higher Throughput Assays for Understanding the Pathogenicity of Variants of Unknown Significance in the RPE65 Gene.

Azizzadeh Pormehr L et al.

Investigative Ophthalmology & Visual Science, 2025

Higher throughput assays for understanding the pathogenicity of variants of unknown significance (VUS) in the RPE65 gene.

Pormehr LA et al.

Biorxiv : the Preprint Server for Biology, 2025

An inducible amphipathic α-helix mediates subcellular targeting and membrane binding of RPE65.

Uppal S et al.

Life Science Alliance, 2023

36265895 (PubMed )
Supplement: LSA-2022-01546_review_history.pdf

Identification of a novel palmitylation site essential for membrane association and isomerohydrolase activity of RPE65.

Takahashi Y et al.

The Journal of Biological Chemistry, 2009

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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."