Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.P47A

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.P47A
c.139C>G
Surrounding Variants
1 paper
NM_000329.3
p.P47S
c.139C>T
9 papers
NM_000329.3
p.G46delFs
c.138delC
3 papers
NM_000329.3
p.P47fs
c.139_140fs
1 paper
NM_000329.3
p.P47L
c.140C>T
1 paper
NM_000329.3
p.G46V
c.137G>T
5 papers
NM_000329.3
p.G46E
c.137G>A
1 paper
NM_000329.3
p.P47P
c.141A>T
1 paper
NM_000329.3
p.P47fs
c.139_140fs
1 paper
NM_000329.3
p.P47delFs
c.139delG
1 paper
NM_000329.3
p.L43_P47delFs
c.128_140del13
1 paper
NM_000329.3
p.G46W
c.136G>T
1 paper
NM_000329.3
p.G48insFs
c.142_143insGA
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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."