Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.R446_L447Splc

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.R446_L447Splc
c.1339-32T>C
Surrounding Variants
1 paper
NM_000329.3
p.R446_L447Splc
c.1339-30G>T
1 paper
NM_000329.3
p.R446_L447Splc
c.1339-30G>A
1 paper
NM_000329.3
p.R446_L447Splc
c.1339-36C>G
1 paper
NM_000329.3
p.R446_L447Splc
c.1339-37A>C
1 paper
NM_000329.3
p.R446_L447Splc
c.1339-39T>C
1 paper
NM_000329.3
p.R446_L447Splc
c.1339-25A>G
1 paper
NM_000329.3
p.R446_L447Splc
c.1339-25A>C
1 paper
NM_000329.3
p.R446_L447Splc
c.1339-40T>C
1 paper
NM_000329.3
p.R446_L447Splc
c.1339-23T>G
1 paper
NM_000329.3
p.R446_L447Splc
c.1339-41A>G
1 paper
NM_000329.3
p.R446_L447Splc
c.1339-42T>C
1 paper
NM_000329.3
p.R446_L447Splc
c.1339-21A>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."