Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.G104R

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.G104R
c.310G>C
Surrounding Variants
1 paper
NM_000329.3
p.G104C
c.310G>T
7 papers
NM_000329.3
p.G104S
c.310G>A
5 papers
NM_000329.3
p.F103L
c.309T>G
4 papers
NM_000329.3
p.F103L
c.309T>A
10 papers
NM_000329.3
p.G104V
c.311G>T
1 paper
NM_000329.3
p.G104A
c.311G>C
7 papers
NM_000329.3
p.G104D
c.311G>A
2 papers
NM_000329.3
p.F103S
c.308T>C
3 papers
NM_000329.3
p.F103Y
c.308T>A
9 papers
NM_000329.3
p.I98_G104delFs
c.292_311del20
4 papers
NM_000329.3
p.F103L
c.307T>C
3 papers
NM_000329.3
p.F103I
c.307T>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."