Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.G380S

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.G380S
c.1138G>A
Surrounding Variants
1 paper
NM_000329.3
p.G380R
c.1138G>C
1 paper
NM_000329.3
p.G380D
c.1139G>A
1 paper
NM_000329.3
p.G380G
c.1140C>T
1 paper
NM_000329.3
p.T379I
c.1136C>T
2 papers
NM_000329.3
p.T379R
c.1136C>G
1 paper
NM_000329.3
p.T379A
c.1135A>G
1 paper
NM_000329.3
p.A377_D378ins0
c.1131_1133dupTGA
1 paper
NM_000329.3
p.K381R
c.1142A>G
2 papers
NM_000329.3
p.K381N
c.1143G>T
3 papers
NM_000329.3
p.K381N
c.1143G>C
2 papers
NM_000329.3
p.D378V
c.1133A>T
2 papers
NM_000329.3
p.A377G
c.1130C>G
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