Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.K508K

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.K508K
c.1524G>A
Surrounding Variants
2 papers
NM_000329.3
p.K508N
c.1524G>T
2 papers
NM_000329.3
p.K508N
c.1524G>C
1 paper
NM_000329.3
p.D509N
c.1525G>A
1 paper
NM_000329.3
p.K508R
c.1523A>G
1 paper
NM_000329.3
p.D509G
c.1526A>G
1 paper
NM_000329.3
p.D509delFs
c.1525delC
1 paper
NM_000329.3
p.L510V
c.1528T>G
3 papers
NM_000329.3
p.A507V
c.1520C>T
2 papers
NM_000329.3
p.A507G
c.1520C>G
1 paper
NM_000329.3
p.L510*
c.1529T>G
1 paper
NM_000329.3
p.L510*
c.1529T>A
3 papers
NM_000329.3
p.A507S
c.1519G>T
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