Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.L502L

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.L502L
c.1506C>G
Surrounding Variants
1 paper
NM_000329.3
p.L502L
c.1506C>T
1 paper
NM_000329.3
p.L503L
c.1507C>T
1 paper
NM_000329.3
p.L502F
c.1504C>T
1 paper
NM_000329.3
p.Y501delFs
c.1503delA
3 papers
NM_000329.3
p.Y501*
c.1503T>G
3 papers
NM_000329.3
p.Y501*
c.1503T>A
1 paper
NM_000329.3
p.Y501C
c.1502A>G
1 paper
NM_000329.3
p.Y501insFs
c.1501_1502ins4
1 paper
NM_000329.3
p.I504I
c.1512T>A
1 paper
NM_000329.3
p.L505V
c.1513C>G
1 paper
NM_000329.3
p.A500G
c.1499C>G
4 papers
NM_000329.3
p.L505R
c.1514T>G
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