Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.H76R

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.H76R
c.227A>G
Surrounding Variants
4 papers
NM_000329.3
p.H76P
c.227A>C
2 papers
NM_000329.3
p.H76Y
c.226C>T
3 papers
NM_000329.3
p.G75E
c.224G>A
2 papers
NM_000329.3
p.G75R
c.223G>C
1 paper
NM_000329.3
p.G75R
c.223G>A
1 paper
NM_000329.3
p.V77insFs
c.230dupT
3 papers
NM_000329.3
p.V77V
c.231C>A
1 paper
NM_000329.3
p.T78P
c.232A>C
1 paper
NM_000329.3
p.T78fs
c.232_233fs
1 paper
NM_000329.3
p.E74G
c.221A>G
1 paper
NM_000329.3
p.E74Q
c.220G>C
2 papers
NM_000329.3
p.E74K
c.220G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."