Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.D482Y

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
4 papers
NM_000329.3
p.D482Y
c.1444G>T
Surrounding Variants
5 papers
NM_000329.3
p.D482N
c.1444G>A
6 papers
NM_000329.3
p.D482V
c.1445A>T
4 papers
NM_000329.3
p.D482G
c.1445A>G
1 paper
NM_000329.3
p.D482D
c.1446T>C
6 papers
NM_000329.3
p.E481_D482del1
c.1443_1445delTCT
1 paper
NM_000329.3
p.E481*
c.1441G>T
3 papers
NM_000329.3
p.E481K
c.1441G>A
1 paper
NM_000329.3
p.D483N
c.1447G>A
1 paper
NM_000329.3
p.D482delFs
c.1446delA
2 papers
NM_000329.3
p.D483V
c.1448A>T
1 paper
NM_000329.3
p.D483D
c.1449T>C
1 paper
NM_000329.3
p.L479insFs
c.1437dupG
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