Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.P109S

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
4 papers
NM_000329.3
p.P109S
c.325C>T
Surrounding Variants
1 paper
NM_000329.3
p.F108C
c.323T>G
1 paper
NM_000329.3
p.F108fs
c.322_323fs
1 paper
NM_000329.3
p.A107delFs
c.320delG
2 papers
NM_000329.3
p.D110V
c.329A>T
10 papers
NM_000329.3
p.D110G
c.329A>G
2 papers
NM_000329.3
p.D110A
c.329A>C
2 papers
NM_000329.3
p.A107V
c.320C>T
1 paper
NM_000329.3
p.A107G
c.320C>G
1 paper
NM_000329.3
p.T105_A107delFs
c.313_319del7
1 paper
NM_000329.3
p.A107T
c.319G>A
1 paper
NM_000329.3
p.T105_C106delFs
c.315_318del4
6 papers
NM_000329.3
p.P111S
c.331C>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."