Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.I100K

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.I100K
c.299T>A
Surrounding Variants
1 paper
NM_000329.3
p.I100delFs
c.298delT
1 paper
NM_000329.3
p.I100L
c.298A>T
1 paper
NM_000329.3
p.I100L
c.298A>C
1 paper
NM_000329.3
p.V99V
c.297C>T
12 papers
NM_000329.3
p.T101I
c.302C>T
7 papers
NM_000329.3
p.V99I
c.295G>A
33 papers
NM_000329.3
p.E102*
c.304G>T
17 papers
NM_000329.3
p.E102K
c.304G>A
1 paper
NM_000329.3
p.I98I
c.294C>T
1 paper
NM_000329.3
p.I98I
c.294C>A
1 paper
NM_000329.3
p.I98delFs
c.293delA
1 paper
NM_000329.3
p.I98T
c.293T>C
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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."