Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.E51G

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
1 paper
NM_000329.3
p.E51G
c.152A>G
Surrounding Variants
1 paper
NM_000329.3
p.E51K
c.151G>A
1 paper
NM_000329.3
p.F50delFs
c.149_150delAA
1 paper
NM_000329.3
p.V52F
c.154G>T
7 papers
NM_000329.3
p.F50S
c.149T>C
1 paper
NM_000329.3
p.V52D
c.155T>A
1 paper
NM_000329.3
p.F50Y
c.149T>A
1 paper
NM_000329.3
p.L49_F50insFs
c.147_148ins4
1 paper
NM_000329.3
p.L49R
c.146T>G
1 paper
NM_000329.3
p.G53V
c.158G>T
1 paper
NM_000329.3
p.G53E
c.158G>A
1 paper
NM_000329.3
p.L49F
c.145C>T
2 papers
NM_000329.3
p.L49fs
c.145_146fs
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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."