Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.L383_T392del10

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.L383_T392del10
c.1147_1175del30
Surrounding Variants
4 papers
NM_000329.3
p.A393G
c.1178C>G
9 papers
NM_000329.3
p.A393E
c.1178C>A
2 papers
NM_000329.3
p.T392I
c.1175C>T
2 papers
NM_000329.3
p.T392N
c.1175C>A
2 papers
NM_000329.3
p.I394V
c.1180A>G
1 paper
NM_000329.3
p.T392A
c.1174A>G
5 papers
NM_000329.3
p.T392P
c.1174A>C
1 paper
NM_000329.3
p.I394_L395ins4
c.1180_1184ins12
1 paper
NM_000329.3
p.A393_I394delFs
c.1179_1180delTT
2 papers
NM_000329.3
p.I394M
c.1182T>G
4 papers
NM_000329.3
p.A391D
c.1172C>A
2 papers
NM_000329.3
p.L395fs
c.1183_1184fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."