Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.A495G

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
2 papers
NM_000329.3
p.A495G
c.1484C>G
Surrounding Variants
2 papers
NM_000329.3
p.A495E
c.1484C>A
1 paper
NM_000329.3
p.A495_G496insG
c.1483_1487ins3
1 paper
NM_000329.3
p.A495T
c.1483G>A
1 paper
NM_000329.3
p.A495A
c.1485A>C
1 paper
NM_000329.3
p.S492_A495delFs
c.1476_1483del8
2 papers
NM_000329.3
p.G496R
c.1486G>C
2 papers
NM_000329.3
p.G496R
c.1486G>A
1 paper
NM_000329.3
p.G494E
c.1481G>A
1 paper
NM_000329.3
p.S492_P493del2
c.1474_1478del6
1 paper
NM_000329.3
p.G496G
c.1488A>G
1 paper
NM_000329.3
p.P493P
c.1479A>G
1 paper
NM_000329.3
p.S492_P493insFs
c.1476_1477dupCC
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