Varaico: Literature-Extracted Genetic Variants

Gene:OPN1LW
Variant:p.G12D

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
7 papers
NM_020061.6
p.G12D
c.35G>A
Surrounding Variants
2 papers
NM_020061.6
p.G12V
c.35G>T
1 paper
NM_020061.6
p.G12R
c.34G>C
1 paper
NM_020061.6
p.G12C
c.34G>T
3 papers
NM_020061.6
p.R13H
c.38G>A
1 paper
NM_020061.6
p.R13insFs
c.39dupC
1 paper
NM_020061.6
p.H14delFs
c.40delC
1 paper
NM_020061.6
p.H14_D17Fs
c.41_51delinsTFs
1 paper
NM_020061.6
p.P15S
c.43C>T
1 paper
NM_020061.6
p.R9K
c.26G>A
1 paper
NM_020061.6
p.L7L
c.21C>A
1 paper
NM_020061.6
p.D17N
c.49G>A
1 paper
NM_020061.6
p.D17E
c.51C>A
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