Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.L510*

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.L510*
c.1529T>A
Surrounding Variants
1 paper
NM_000329.3
p.L510*
c.1529T>G
1 paper
NM_000329.3
p.L510V
c.1528T>G
1 paper
NM_000329.3
p.S511G
c.1531A>G
2 papers
NM_000329.3
p.S511R
c.1531A>C
1 paper
NM_000329.3
p.S511insFs
c.1531dupA
1 paper
NM_000329.3
p.S511T
c.1532G>C
1 paper
NM_000329.3
p.S511N
c.1532G>A
1 paper
NM_000329.3
p.D509G
c.1526A>G
1 paper
NM_000329.3
p.D509delFs
c.1525delC
2 papers
NM_000329.3
p.S511R
c.1533T>G
2 papers
NM_000329.3
p.S511R
c.1533T>A
1 paper
NM_000329.3
p.D509N
c.1525G>A
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