Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.P476R

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.P476R
c.1427C>G
Surrounding Variants
2 papers
NM_000329.3
p.P476T
c.1426C>A
1 paper
NM_000329.3
p.D477H
c.1429G>C
1 paper
NM_000329.3
p.D477N
c.1429G>A
1 paper
NM_000329.3
p.H475H
c.1425C>T
3 papers
NM_000329.3
p.H475Q
c.1425C>G
3 papers
NM_000329.3
p.H475Q
c.1425C>A
1 paper
NM_000329.3
p.D477V
c.1430A>T
61 papers
NM_000329.3
p.D477G
c.1430A>G
3 papers
NM_000329.3
p.H475P
c.1424A>C
2 papers
NM_000329.3
p.D477A
c.1430A>C
1 paper
NM_000329.3
p.D477E
c.1431T>G
1 paper
NM_000329.3
p.D477D
c.1431T>C
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."