Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.V459A

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
2 papers
NM_000329.3
p.V459A
c.1376T>C
Surrounding Variants
1 paper
NM_000329.3
p.W458delFs
c.1373delC
6 papers
NM_000329.3
p.W458*
c.1374G>A
8 papers
NM_000329.3
p.W460*
c.1379G>A
4 papers
NM_000329.3
p.W458*
c.1373G>A
7 papers
NM_000329.3
p.W460C
c.1380G>T
7 papers
NM_000329.3
p.W460C
c.1380G>C
8 papers
NM_000329.3
p.W460*
c.1380G>A
1 paper
NM_000329.3
p.T457T
c.1371T>C
1 paper
NM_000329.3
p.Q461*
c.1381C>T
1 paper
NM_000329.3
p.T457I
c.1370C>T
11 papers
NM_000329.3
p.T457N
c.1370C>A
1 paper
NM_000329.3
p.Q461P
c.1382A>C
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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."