Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.N451Y

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
3 papers
NM_000329.3
p.N451Y
c.1351A>T
Surrounding Variants
1 paper
NM_000329.3
p.N451D
c.1351A>G
1 paper
NM_000329.3
p.L450L
c.1350G>T
5 papers
NM_000329.3
p.L450R
c.1349T>G
1 paper
NM_000329.3
p.V452I
c.1354G>A
3 papers
NM_000329.3
p.L450V
c.1348C>G
54 papers
NM_000329.3
p.L450M
c.1348C>A
7 papers
NM_000329.3
p.V452G
c.1355T>G
1 paper
NM_000329.3
p.K449delFs
c.1345delT
1 paper
NM_000329.3
p.K449R
c.1346A>G
2 papers
NM_000329.3
p.K453E
c.1357A>G
1 paper
NM_000329.3
p.L447_C448del2
c.1339_1343del6
1 paper
NM_000329.3
p.C448_K449insFs
c.1344_1345insC
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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."