Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.A516A

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.A516A
c.1548T>C
Surrounding Variants
1 paper
NM_000329.3
p.A516A
c.1548T>A
1 paper
NM_000329.3
p.E517K
c.1549G>A
4 papers
NM_000329.3
p.A516V
c.1547C>T
5 papers
NM_000329.3
p.R515Q
c.1544G>A
2 papers
NM_000329.3
p.V518M
c.1552G>A
2 papers
NM_000329.3
p.R515delFs
c.1543delG
2 papers
NM_000329.3
p.V518A
c.1553T>C
52 papers
NM_000329.3
p.R515W
c.1543C>T
1 paper
NM_000329.3
p.V518V
c.1554G>A
6 papers
NM_000329.3
p.E519*
c.1555G>T
6 papers
NM_000329.3
p.E519K
c.1555G>A
1 paper
NM_000329.3
p.A514V
c.1541C>T
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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."