Varaico: Literature-Extracted Genetic Variants

Gene:OPN1LW
Variant:p.E150D

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.E150D
c.450G>C
Surrounding Variants
4 papers
NM_020061.6
p.R151R
c.453A>G
1 paper
NM_020061.6
p.W149_E150del1
c.447_449delGGA
4 papers
NM_020061.6
p.M153L
c.457A>C
1 paper
NM_020061.6
p.M153L
c.457A>T
1 paper
NM_020061.6
p.M153R
c.458T>G
1 paper
NM_020061.6
p.V155I
c.463G>A
1 paper
NM_020061.6
p.V155delFs
c.464delT
1 paper
NM_020061.6
p.V155D
c.464T>A
3 papers
NM_020061.6
p.V155V
c.465C>G
1 paper
NM_020061.6
p.A145fs
c.433_434fs
1 paper
NM_020061.6
p.A145fs
c.433_434fs
1 paper
NM_020061.6
p.S143S
c.429T>C
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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."