Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.S488R

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
6 papers
NM_000329.3
p.S488R
c.1464T>G
Surrounding Variants
1 paper
NM_000329.3
p.S488S
c.1464T>C
6 papers
NM_000329.3
p.S488R
c.1464T>A
1 paper
NM_000329.3
p.V489L
c.1465G>T
1 paper
NM_000329.3
p.V489L
c.1465G>C
2 papers
NM_000329.3
p.V489M
c.1465G>A
6 papers
NM_000329.3
p.S488R
c.1462A>C
1 paper
NM_000329.3
p.L487L
c.1461G>A
1 paper
NM_000329.3
p.L487delFs
c.1459_1460delAG
2 papers
NM_000329.3
p.V490M
c.1468G>A
1 paper
NM_000329.3
p.V489insFs
c.1467dupG
1 paper
NM_000329.3
p.L487fs
c.1459_1460fs
1 paper
NM_000329.3
p.L487L
c.1459C>T
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