Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.P111S

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.P111S
c.331C>T
Surrounding Variants
1 paper
NM_000329.3
p.P111A
c.331C>G
1 paper
NM_000329.3
p.P111T
c.331C>A
1 paper
NM_000329.3
p.P111H
c.332C>A
1 paper
NM_000329.3
p.P111P
c.333C>A
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
1 paper
NM_000329.3
p.P111insFs
c.331dupC
3 papers
NM_000329.3
p.C112S
c.334T>A
3 papers
NM_000329.3
p.C112S
c.335G>C
7 papers
NM_000329.3
p.C112Y
c.335G>A
1 paper
NM_000329.3
p.C112*
c.336C>A
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