Varaico: Literature-Extracted Genetic Variants

Gene:OPN1LW
Variant:p.C238S

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.C238S
c.712T>A
Surrounding Variants
1 paper
NM_020061.6
p.C238G
c.712T>G
1 paper
NM_020061.6
p.C238S
c.713G>C
1 paper
NM_020061.6
p.L240insFs
c.718dupC
1 paper
NM_020061.6
p.Y239insFs
c.716_717insG
1 paper
NM_020061.6
p.M236L
c.706A>C
1 paper
NM_020061.6
p.M236V
c.706A>G
1 paper
NM_020061.6
p.M236L
c.706A>T
1 paper
NM_020061.6
p.I234I
c.702C>T
1 paper
NM_020061.6
p.I234_I235insAA
c.700_704ins6
1 paper
NM_020061.6
p.V242M
c.724G>A
1 paper
NM_020061.6
p.V242A
c.725T>C
2 papers
NM_020061.6
p.A233S
c.697G>T
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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."