Varaico: Literature-Extracted Genetic Variants

Gene:OPN1LW
Variant:p.A48D

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.A48D
c.143C>A
Surrounding Variants
1 paper
NM_020061.6
p.A48V
c.143C>T
1 paper
NM_020061.6
p.A48insFs
c.142_143ins44
1 paper
NM_020061.6
p.P49insFs
c.147dupC
1 paper
NM_020061.6
p.I47M
c.141C>G
1 paper
NM_020061.6
p.R50insFs
c.148_149insG
1 paper
NM_020061.6
p.H46R
c.137A>G
2 papers
NM_020061.6
p.H46D
c.136C>G
1 paper
NM_020061.6
p.Y45*
c.135C>G
1 paper
NM_020061.6
p.N44K
c.132T>A
1 paper
NM_020061.6
p.V52E
c.155T>A
1 paper
NM_020061.6
p.V52A
c.155T>C
1 paper
NM_020061.6
p.V52G
c.155T>G
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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."