Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.P470R

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
3 papers
NM_000329.3
p.P470R
c.1409C>G
Surrounding Variants
9 papers
NM_000329.3
p.P470L
c.1409C>T
2 papers
NM_000329.3
p.P470H
c.1409C>A
3 papers
NM_000329.3
p.P470S
c.1408C>T
1 paper
NM_000329.3
p.P470P
c.1410C>T
1 paper
NM_000329.3
p.P470A
c.1408C>G
1 paper
NM_000329.3
p.I471V
c.1411A>G
1 paper
NM_000329.3
p.E469E
c.1407A>G
1 paper
NM_000329.3
p.I471T
c.1412T>C
1 paper
NM_000329.3
p.I471delFs
c.1411delT
1 paper
NM_000329.3
p.E469A
c.1406A>C
1 paper
NM_000329.3
p.E469Q
c.1405G>C
1 paper
NM_000329.3
p.S468S
c.1404A>G
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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."