Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.S397I

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.S397I
c.1190G>T
Surrounding Variants
1 paper
NM_000329.3
p.S397N
c.1190G>A
2 papers
NM_000329.3
p.S397G
c.1189A>G
1 paper
NM_000329.3
p.C396C
c.1188C>T
1 paper
NM_000329.3
p.C396F
c.1187G>T
1 paper
NM_000329.3
p.C396G
c.1186T>G
1 paper
NM_000329.3
p.C396R
c.1186T>C
1 paper
NM_000329.3
p.D398D
c.1194C>T
4 papers
NM_000329.3
p.E399K
c.1195G>A
1 paper
NM_000329.3
p.L395delFs
c.1184delA
1 paper
NM_000329.3
p.L395R
c.1184T>G
1 paper
NM_000329.3
p.E399D
c.1197G>T
1 paper
NM_000329.3
p.E399D
c.1197G>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."