Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.A360T

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.A360T
c.1078G>A
Surrounding Variants
2 papers
NM_000329.3
p.A360S
c.1078G>T
10 papers
NM_000329.3
p.A360P
c.1078G>C
1 paper
NM_000329.3
p.N356_K359del4
c.1066_1076del12
2 papers
NM_000329.3
p.K359N
c.1077G>T
1 paper
NM_000329.3
p.R358_K359insFs
c.1074_1075dupAA
2 papers
NM_000329.3
p.K359N
c.1077G>C
1 paper
NM_000329.3
p.K359K
c.1077G>A
1 paper
NM_000329.3
p.A360V
c.1079C>T
1 paper
NM_000329.3
p.A360delFs
c.1079delG
1 paper
NM_000329.3
p.P361S
c.1081C>T
1 paper
NM_000329.3
p.A357_A360del0
c.1069_1080del12
1 paper
NM_000329.3
p.P361L
c.1082C>T
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