Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.G484Splc

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.G484Splc
c.1450+19G>T
Surrounding Variants
1 paper
NM_000329.3
p.G484Splc
c.1450+19G>C
2 papers
NM_000329.3
p.G484Splc
c.1450+20T>C
1 paper
NM_000329.3
p.G484Splc
c.1450+21G>T
1 paper
NM_000329.3
p.G484Splc
c.1450+23C>T
1 paper
NM_000329.3
p.G484Splc
c.1450+23C>A
1 paper
NM_000329.3
p.G484Splc
c.1450+13A>G
1 paper
NM_000329.3
p.G484Splc
c.1450+13A>C
1 paper
NM_000329.3
p.G484Splc
c.1450+27A>C
1 paper
NM_000329.3
p.G484Splc
c.1450+29A>G
1 paper
NM_000329.3
p.G484Splc
c.1450+7A>G
1 paper
NM_000329.3
p.G484Splc
c.1450+33T>G
1 paper
NM_000329.3
p.G484Splc
c.1450+5T>A
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