Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.Y435H

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
4 papers
NM_000329.3
p.Y435H
c.1303T>C
Surrounding Variants
2 papers
NM_000329.3
p.A434A
c.1302G>T
2 papers
NM_000329.3
p.A434A
c.1302G>C
4 papers
NM_000329.3
p.A434A
c.1302G>A
1 paper
NM_000329.3
p.A434delins
c.1301_1302delinsTC
1 paper
NM_000329.3
p.A434delins
c.1301_1302delinsTA
6 papers
NM_000329.3
p.Y435C
c.1304A>G
1 paper
NM_000329.3
p.A434_Y435delFs
c.1300_1303del4
24 papers
NM_000329.3
p.A434V
c.1301C>T
7 papers
NM_000329.3
p.A434E
c.1301C>A
3 papers
NM_000329.3
p.G436R
c.1306G>C
4 papers
NM_000329.3
p.G436R
c.1306G>A
1 paper
NM_000329.3
p.Y433delFs
c.1299delA
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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."