Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.I3V

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.I3V
c.7A>G
Surrounding Variants
1 paper
NM_000329.3
p.I3_Q4insT
c.7_11ins3
1 paper
NM_000329.3
p.I3insFs
c.7_8insAG
2 papers
NM_000329.3
p.I3S
c.8T>G
1 paper
NM_000329.3
p.I3T
c.8T>C
1 paper
NM_000329.3
p.S2S
c.6T>C
1 paper
NM_000329.3
p.I3insFs
c.8dupT
1 paper
NM_000329.3
p.S2P
c.4T>C
3 papers
NM_000329.3
p.Q4*
c.10C>T
1 paper
NM_000329.3
p.Q4fs
c.10_11fs
2 papers
NM_000329.3
p.M1I
c.3G>T
6 papers
NM_000329.3
p.M1_S2insFs
c.3_4insT
1 paper
NM_000329.3
p.M1Fs
c.3delinsCATTTGGGCTCCTCATTTGGFs
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."