Varaico: Literature-Extracted Genetic Variants

Gene:OPN1LW
Variant:p.L128L

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
3 papers
NM_020061.6
p.L128L
c.384G>A
Surrounding Variants
1 paper
NM_020061.6
p.E129delFs
c.385delG
1 paper
NM_020061.6
p.L128_E129delFs
c.384_387del4
1 paper
NM_020061.6
p.E129delFs
c.387delG
1 paper
NM_020061.6
p.L128fs
c.382_383fs
1 paper
NM_020061.6
p.V127delFs
c.381delC
1 paper
NM_020061.6
p.L128insFs
c.382_383ins4
1 paper
NM_020061.6
p.G130V
c.389G>T
1 paper
NM_020061.6
p.C126W
c.378T>G
1 paper
NM_020061.6
p.Y131D
c.391T>G
1 paper
NM_020061.6
p.C126S
c.376T>A
1 paper
NM_020061.6
p.T132A
c.394A>G
1 paper
NM_020061.6
p.M125K
c.374T>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."