Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.G333Splc

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.G333Splc
c.999-38C>G
Surrounding Variants
1 paper
NM_000329.3
p.G333Splc
c.999-38C>T
1 paper
NM_000329.3
p.G333Splc
c.999-37A>G
1 paper
NM_000329.3
p.G333Splc
c.999-36T>C
1 paper
NM_000329.3
p.G333Splc
c.999-35T>C
1 paper
NM_000329.3
p.G333Splc
c.999-43T>A
1 paper
NM_000329.3
p.G333Splc
c.999-33C>T
1 paper
NM_000329.3
p.G333Splc
c.999-33C>A
1 paper
NM_000329.3
p.G333Splc
c.999-32C>T
1 paper
NM_000329.3
p.G333Splc
c.999-28G>A
1 paper
NM_000329.3
p.G333Splc
c.999-25C>T
1 paper
NM_000329.3
p.G333Splc
c.999-25C>A
1 paper
NM_000329.3
p.G333Splc
c.999-24A>C
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