Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.S2P

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.S2P
c.4T>C
Surrounding Variants
2 papers
NM_000329.3
p.M1I
c.3G>T
6 papers
NM_000329.3
p.M1_S2insFs
c.3_4insT
1 paper
NM_000329.3
p.M1Fs
c.3delinsCATTTGGGCTCCTCATTTGGFs
1 paper
NM_000329.3
p.M1I
c.3G>C
3 papers
NM_000329.3
p.M1I
c.3G>A
3 papers
NM_000329.3
p.M1insFs
c.1dupA
11 papers
NM_000329.3
p.M1T
c.2T>C
1 paper
NM_000329.3
p.S2S
c.6T>C
1 paper
NM_000329.3
p.M1K
c.2T>A
1 paper
NM_000329.3
p.M1L
c.1A>T
2 papers
NM_000329.3
p.I3V
c.7A>G
1 paper
NM_000329.3
p.M1V
c.1A>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."