Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.R91insFs

RPE65

859 papers

RefSeq Summary

The protein encoded by this gene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photoreceptors opsin visual pigments. It is a member of...

Pfam Domains

RPE65aa 15–532UCSCRetinal pigment epithelial membrane protein

Gene Aliases

HGNC Name

retinoid isomerohydrolase RPE65

HGNC Previous Symbol

RP20

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000329.3
p.R91insFs
c.273dupG
Surrounding Variants
1 paper
NM_000329.3
p.A92S
c.274G>T
2 papers
NM_000329.3
p.A92T
c.274G>A
1 paper
NM_000329.3
p.M93T
c.278T>C
1 paper
NM_000329.3
p.R91insFs
c.271dupC
6 papers
NM_000329.3
p.R91P
c.272G>C
42 papers
NM_000329.3
p.R91Q
c.272G>A
150 papers
NM_000329.3
p.R91W
c.271C>T
1 paper
NM_000329.3
p.R91_A92insC
c.271_275ins3
3 papers
NM_000329.3
p.R91insFs
c.271_272insA
3 papers
NM_000329.3
p.T94A
c.280A>G
5 papers
NM_000329.3
p.T94I
c.281C>T
1 paper
NM_000329.3
p.V90_R91insT
c.268_272ins3
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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."