Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.Q4Splc

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.Q4Splc
c.11+2T>G
Surrounding Variants
1 paper
NM_000329.3
p.Q4Splc
c.11+1G>T
1 paper
NM_000329.3
p.Q4R
c.11A>G
2 papers
NM_000329.3
p.Q4delFs
c.10delG
67 papers
NM_000329.3
p.Q4Splc
c.11+5G>A
3 papers
NM_000329.3
p.Q4*
c.10C>T
1 paper
NM_000329.3
p.Q4fs
c.10_11fs
1 paper
NM_000329.3
p.I3insFs
c.8dupT
1 paper
NM_000329.3
p.I3insFs
c.7_8insAG
2 papers
NM_000329.3
p.I3S
c.8T>G
1 paper
NM_000329.3
p.I3T
c.8T>C
2 papers
NM_000329.3
p.I3V
c.7A>G
1 paper
NM_000329.3
p.I3_Q4insT
c.7_11ins3
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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."