Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.H59Q

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
6 papers
NM_000329.3
p.H59Q
c.177C>A
Surrounding Variants
6 papers
NM_000329.3
p.H59Q
c.177C>G
1 paper
NM_000329.3
p.L60fs
c.178_179fs
8 papers
NM_000329.3
p.L60P
c.179T>C
1 paper
NM_000329.3
p.H59Y
c.175C>T
2 papers
NM_000329.3
p.L60delFs
c.179delA
3 papers
NM_000329.3
p.F61L
c.181T>C
1 paper
NM_000329.3
p.F61I
c.181T>A
3 papers
NM_000329.3
p.F61Y
c.182T>A
1 paper
NM_000329.3
p.Y58N
c.172T>A
3 papers
NM_000329.3
p.F61L
c.183T>G
1 paper
NM_000329.3
p.F57L
c.171T>G
3 papers
NM_000329.3
p.F61L
c.183T>A
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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."