Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.A478G

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
3 papers
NM_000329.3
p.A478G
c.1433C>G
Surrounding Variants
2 papers
NM_000329.3
p.A478V
c.1433C>T
1 paper
NM_000329.3
p.A478D
c.1433C>A
1 paper
NM_000329.3
p.S474_A478delFs
c.1420_1432del13
2 papers
NM_000329.3
p.A478T
c.1432G>A
2 papers
NM_000329.3
p.L479V
c.1435T>G
1 paper
NM_000329.3
p.D477E
c.1431T>G
1 paper
NM_000329.3
p.L479L
c.1435T>C
1 paper
NM_000329.3
p.D477D
c.1431T>C
1 paper
NM_000329.3
p.D477E
c.1431T>A
1 paper
NM_000329.3
p.D477V
c.1430A>T
61 papers
NM_000329.3
p.D477G
c.1430A>G
2 papers
NM_000329.3
p.D477A
c.1430A>C
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