Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.S465*

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.S465*
c.1394C>A
Surrounding Variants
1 paper
NM_000329.3
p.S465*
c.1394C>G
1 paper
NM_000329.3
p.S465S
c.1395A>G
2 papers
NM_000329.3
p.Y466H
c.1396T>C
1 paper
NM_000329.3
p.D464V
c.1391A>T
1 paper
NM_000329.3
p.D464N
c.1390G>A
1 paper
NM_000329.3
p.Q461_P463del3
c.1381_1388del9
1 paper
NM_000329.3
p.Y466Y
c.1398C>T
4 papers
NM_000329.3
p.Y466*
c.1398C>G
5 papers
NM_000329.3
p.Y466*
c.1398C>A
1 paper
NM_000329.3
p.P463fs
c.1387_1388fs
5 papers
NM_000329.3
p.P467S
c.1399C>T
14 papers
NM_000329.3
p.P467A
c.1399C>G
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