Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.T525delFs

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.T525delFs
c.1573delT
Surrounding Variants
1 paper
NM_000329.3
p.T525I
c.1574C>T
3 papers
NM_000329.3
p.T525N
c.1574C>A
1 paper
NM_000329.3
p.T525T
c.1575C>T
1 paper
NM_000329.3
p.T525A
c.1573A>G
1 paper
NM_000329.3
p.F526L
c.1576T>C
1 paper
NM_000329.3
p.F526Y
c.1577T>A
1 paper
NM_000329.3
p.F526L
c.1578T>G
1 paper
NM_000329.3
p.F526L
c.1578T>A
1 paper
NM_000329.3
p.I522_P523insFs
c.1566_1569dup4
1 paper
NM_000329.3
p.P523insFs
c.1567dupC
4 papers
NM_000329.3
p.H527Y
c.1579C>T
1 paper
NM_000329.3
p.T525_F526del2
c.1573_1577del6
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