Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.C106_P111del6

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.C106_P111del6
c.316_332del18
Surrounding Variants
1 paper
NM_000329.3
p.C112*
c.336C>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.K113Q
c.337A>C
1 paper
NM_000329.3
p.A107_C112delFs
c.321_336del16
1 paper
NM_000329.3
p.P111insFs
c.331dupC
3 papers
NM_000329.3
p.C112S
c.334T>A
1 paper
NM_000329.3
p.K113N
c.339G>T
1 paper
NM_000329.3
p.K113N
c.339G>C
1 paper
NM_000329.3
p.P111P
c.333C>A
1 paper
NM_000329.3
p.P111H
c.332C>A
8 papers
NM_000329.3
p.N114H
c.340A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."