Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.S121insFs

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
5 papers
NM_000329.3
p.S121insFs
c.361_362insT
Surrounding Variants
1 paper
NM_000329.3
p.S121F
c.362C>T
12 papers
NM_000329.3
p.S121delFs
c.361delA
1 paper
NM_000329.3
p.F119_F120delFs
c.356_359del4
1 paper
NM_000329.3
p.S121fs
c.361_362fs
8 papers
NM_000329.3
p.S121fs
c.361_362fs
3 papers
NM_000329.3
p.Y122H
c.364T>C
1 paper
NM_000329.3
p.Y122delFs
c.364delA
1 paper
NM_000329.3
p.F120V
c.358T>G
1 paper
NM_000329.3
p.F123L
c.367T>C
1 paper
NM_000329.3
p.F123L
c.369T>G
1 paper
NM_000329.3
p.F119V
c.355T>G
1 paper
NM_000329.3
p.F123L
c.369T>A
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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."