Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.F530fs

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
2 papers
NM_000329.3
p.F530fs
c.1588_1589fs
Surrounding Variants
13 papers
NM_000329.3
p.F530L
c.1588T>C
2 papers
NM_000329.3
p.G528_L529delFs
c.1584_1587del4
1 paper
NM_000329.3
p.F530S
c.1589T>C
1 paper
NM_000329.3
p.H527_F530del0
c.1580_1588del9
13 papers
NM_000329.3
p.F530L
c.1590C>G
7 papers
NM_000329.3
p.F530fs
c.1588_1589fs
14 papers
NM_000329.3
p.F530L
c.1590C>A
6 papers
NM_000329.3
p.F530delFs
c.1590delG
1 paper
NM_000329.3
p.F530del1
c.1588_1589delGAA
14 papers
NM_000329.3
p.G528V
c.1583G>T
1 paper
NM_000329.3
p.G528A
c.1583G>C
2 papers
NM_000329.3
p.G528R
c.1582G>C
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."