Varaico: Literature-Extracted Genetic Variants

Gene:OPN1LW

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
1–12 of 330 variants
26 papers
NM_020061.6
p.C203R
c.607T>C
14 papers
NM_020061.6
p.I178V
c.532A>G
7 papers
NM_020061.6
p.G12D
c.35G>A
7 papers
NM_020061.6
p.W177R
c.529T>A
7 papers
NM_020061.6
p.W177R
c.529T>C
6 papers
NM_020061.6
p.A174V
c.521C>T
6 papers
NM_020061.6
p.P307L
c.920C>T
4 papers
NM_020061.6
p.K82E
c.244A>G
4 papers
NM_020061.6
p.R151R
c.453A>G
4 papers
NM_020061.6
p.M153L
c.457A>C
4 papers
NM_020061.6
p.S192G
c.574A>G
4 papers
NM_020061.6
p.F208fs
c.622_623fs
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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."