Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.Y144H

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
9 papers
NM_000329.3
p.Y144H
c.430T>C
Surrounding Variants
2 papers
NM_000329.3
p.Y144_A145insT
c.430_434ins3
17 papers
NM_000329.3
p.Y144D
c.430T>G
1 paper
NM_000329.3
p.Y143*
c.429C>G
1 paper
NM_000329.3
p.Y144Y
c.432C>T
4 papers
NM_000329.3
p.Y144*
c.432C>G
4 papers
NM_000329.3
p.Y144*
c.432C>A
1 paper
NM_000329.3
p.Y143_Y144Fs
c.429_432delinsGGTFs
2 papers
NM_000329.3
p.Y143D
c.427T>G
3 papers
NM_000329.3
p.A145P
c.433G>C
6 papers
NM_000329.3
p.A145T
c.433G>A
7 papers
NM_000329.3
p.A145D
c.434C>A
1 paper
NM_000329.3
p.D142V
c.425A>T
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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."