Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.V485A

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.V485A
c.1454T>C
Surrounding Variants
2 papers
NM_000329.3
p.V485I
c.1453G>A
1 paper
NM_000329.3
p.G484G
c.1452T>A
1 paper
NM_000329.3
p.V486F
c.1456G>T
1 paper
NM_000329.3
p.V486I
c.1456G>A
12 papers
NM_000329.3
p.G484V
c.1451G>T
1 paper
NM_000329.3
p.G484A
c.1451G>C
16 papers
NM_000329.3
p.G484D
c.1451G>A
1 paper
NM_000329.3
p.V486V
c.1458T>A
6 papers
NM_000329.3
p.G484Splc
c.1451-1G>A
1 paper
NM_000329.3
p.L487fs
c.1459_1460fs
1 paper
NM_000329.3
p.L487L
c.1459C>T
1 paper
NM_000329.3
p.G484Splc
c.1451-2A>C
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