Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.G436R

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.G436R
c.1306G>C
Surrounding Variants
4 papers
NM_000329.3
p.G436R
c.1306G>A
1 paper
NM_000329.3
p.P430_Y435del6
c.1288_1304del18
6 papers
NM_000329.3
p.G436V
c.1307G>T
1 paper
NM_000329.3
p.Y433_G436insFs
c.1299_1306dup8
2 papers
NM_000329.3
p.G436E
c.1307G>A
6 papers
NM_000329.3
p.Y435C
c.1304A>G
1 paper
NM_000329.3
p.A434_Y435delFs
c.1300_1303del4
4 papers
NM_000329.3
p.Y435H
c.1303T>C
3 papers
NM_000329.3
p.L437F
c.1309C>T
2 papers
NM_000329.3
p.A434A
c.1302G>T
2 papers
NM_000329.3
p.A434A
c.1302G>C
4 papers
NM_000329.3
p.A434A
c.1302G>A
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