Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.H527H

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.H527H
c.1581T>C
Surrounding Variants
2 papers
NM_000329.3
p.G528R
c.1582G>C
2 papers
NM_000329.3
p.G528R
c.1582G>A
10 papers
NM_000329.3
p.H527R
c.1580A>G
3 papers
NM_000329.3
p.H527P
c.1580A>C
14 papers
NM_000329.3
p.G528V
c.1583G>T
1 paper
NM_000329.3
p.G528A
c.1583G>C
4 papers
NM_000329.3
p.H527Y
c.1579C>T
1 paper
NM_000329.3
p.T525_F526del2
c.1573_1577del6
1 paper
NM_000329.3
p.F526L
c.1578T>G
1 paper
NM_000329.3
p.F526L
c.1578T>A
1 paper
NM_000329.3
p.F526Y
c.1577T>A
1 paper
NM_000329.3
p.F526L
c.1576T>C
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