Varaico: Literature-Extracted Genetic Variants

Gene:OPN1LW
Variant:p.P214R

OPN1LW

696 papers

RefSeq Summary

This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called red cone photopigment or long-wavelength sensitive opsin. Opsins are G-protein coupled re...

Pfam Domains

7tm_1aa 70–322UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

opsin 1, long wave sensitive

HGNC Previous Symbols

CBBM; RCP; CBP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020061.6
p.P214R
c.641C>G
Surrounding Variants
1 paper
NM_020061.6
p.Y213*
c.639C>A
1 paper
NM_020061.6
p.Y213*
c.639C>G
1 paper
NM_020061.6
p.Y213delFs
c.638delA
1 paper
NM_020061.6
p.V216G
c.647T>G
1 paper
NM_020061.6
p.F208L
c.624C>G
1 paper
NM_020061.6
p.M220T
c.659T>C
4 papers
NM_020061.6
p.F208fs
c.622_623fs
1 paper
NM_020061.6
p.I221insFs
c.662_663insG
1 paper
NM_020061.6
p.V222L
c.664G>C
1 paper
NM_020061.6
p.V222delFs
c.666delC
3 papers
NM_020061.6
p.D206_V207insFs
c.617_620dup4
1 paper
NM_020061.6
p.D206Y
c.616G>T
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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."