Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.F103L
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RPE65

NM_000329.3:p.F103L

Associated Papers

Is subretinal AAV gene replacement still the only viable treatment option for choroideremia?

Han RC et al.

Expert Opinion on Orphan Drugs, 2021

In silico Mapping of Protein Unfolding Mutations for Inherited Disease.

McCafferty CL et al.

Scientific Reports, 2016

27905547 (PubMed )
Supplement: srep37298-s1.pdf

Aromatic residues in the substrate cleft of RPE65 protein govern retinol isomerization and modulate its progression.

Chander P et al.

The Journal of Biological Chemistry, 2012

Identification of the key residues determining the product specificity of isomerohydrolase.

Takahashi Y et al.

Biochemistry, 2012

RPE65, visual cycle retinol isomerase, is not inherently 11-cis-specific: support for a carbocation mechanism of retinol isomerization.

Redmond TM et al.

The Journal of Biological Chemistry, 2010

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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."