Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.I152V

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.I152V
c.454A>G
Surrounding Variants
1 paper
NM_000329.3
p.F151delFs
c.452_453delAA
1 paper
NM_000329.3
p.F151fs
c.451_452fs
1 paper
NM_000329.3
p.F151C
c.452T>G
1 paper
NM_000329.3
p.T149_N150del2
c.445_449del6
1 paper
NM_000329.3
p.T153S
c.457A>T
4 papers
NM_000329.3
p.T153A
c.457A>G
4 papers
NM_000329.3
p.T153I
c.458C>T
1 paper
NM_000329.3
p.N150N
c.450C>T
2 papers
NM_000329.3
p.T153R
c.458C>G
1 paper
NM_000329.3
p.N150K
c.450C>G
1 paper
NM_000329.3
p.N150delFs
c.448delT
1 paper
NM_000329.3
p.N150S
c.449A>G
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."