Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.S492S

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.S492S
c.1476C>T
Surrounding Variants
1 paper
NM_000329.3
p.S492N
c.1475G>A
1 paper
NM_000329.3
p.P493S
c.1477C>T
1 paper
NM_000329.3
p.V491V
c.1473G>C
1 paper
NM_000329.3
p.P493P
c.1479A>G
1 paper
NM_000329.3
p.S492_P493insFs
c.1476_1477dupCC
1 paper
NM_000329.3
p.V491A
c.1472T>C
2 papers
NM_000329.3
p.V491E
c.1472T>A
1 paper
NM_000329.3
p.S492_P493del2
c.1474_1478del6
3 papers
NM_000329.3
p.V491L
c.1471G>T
2 papers
NM_000329.3
p.V491L
c.1471G>C
1 paper
NM_000329.3
p.G494E
c.1481G>A
1 paper
NM_000329.3
p.V491M
c.1471G>A
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