Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.I522V

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.I522V
c.1564A>G
Surrounding Variants
1 paper
NM_000329.3
p.I522F
c.1564A>T
1 paper
NM_000329.3
p.I522N
c.1565T>A
1 paper
NM_000329.3
p.I522I
c.1566C>A
2 papers
NM_000329.3
p.N521I
c.1562A>T
1 paper
NM_000329.3
p.N521T
c.1562A>C
1 paper
NM_000329.3
p.P523S
c.1567C>T
1 paper
NM_000329.3
p.E519_I520del2
c.1555_1559del6
1 paper
NM_000329.3
p.P523L
c.1568C>T
1 paper
NM_000329.3
p.P523insFs
c.1567dupC
2 papers
NM_000329.3
p.I520T
c.1559T>C
1 paper
NM_000329.3
p.I522_P523insFs
c.1566_1569dup4
2 papers
NM_000329.3
p.I520V
c.1558A>G
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