Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.G53E

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.G53E
c.158G>A
Surrounding Variants
1 paper
NM_000329.3
p.G53V
c.158G>T
1 paper
NM_000329.3
p.S54insFs
c.160_161insCT
1 paper
NM_000329.3
p.G53_S54insFs
c.159_160insAA
1 paper
NM_000329.3
p.S54A
c.160T>G
1 paper
NM_000329.3
p.V52D
c.155T>A
1 paper
NM_000329.3
p.S54F
c.161C>T
1 paper
NM_000329.3
p.S54C
c.161C>G
1 paper
NM_000329.3
p.S54Y
c.161C>A
1 paper
NM_000329.3
p.V52F
c.154G>T
1 paper
NM_000329.3
p.E55V
c.164A>T
1 paper
NM_000329.3
p.E51G
c.152A>G
1 paper
NM_000329.3
p.S54_E55insFs
c.162_163dupTG
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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."