Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.P361_Q362insFs

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.P361_Q362insFs
c.1083_1084insGA
Surrounding Variants
1 paper
NM_000329.3
p.Q362*
c.1084C>T
1 paper
NM_000329.3
p.P361L
c.1082C>T
1 paper
NM_000329.3
p.P361R
c.1082C>G
2 papers
NM_000329.3
p.P361H
c.1082C>A
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.A360delFs
c.1079delG
1 paper
NM_000329.3
p.Q362Q
c.1086A>G
2 papers
NM_000329.3
p.P363S
c.1087C>T
1 paper
NM_000329.3
p.A360V
c.1079C>T
1 paper
NM_000329.3
p.P363A
c.1087C>G
23 papers
NM_000329.3
p.P363T
c.1087C>A
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