Varaico: Literature-Extracted Genetic Variants

Gene:OPN1LW
Variant:p.P186L

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.P186L
c.557C>T
Surrounding Variants
2 papers
NM_020061.6
p.P186S
c.556C>T
1 paper
NM_020061.6
p.P187S
c.559C>T
1 paper
NM_020061.6
p.I188V
c.562A>G
1 paper
NM_020061.6
p.W191*
c.572G>A
2 papers
NM_020061.6
p.S192fs
c.574_575fs
4 papers
NM_020061.6
p.S192G
c.574A>G
2 papers
NM_020061.6
p.A180S
c.538G>T
1 paper
NM_020061.6
p.W179*
c.537G>A
1 paper
NM_020061.6
p.W179*
c.536G>A
14 papers
NM_020061.6
p.I178V
c.532A>G
1 paper
NM_020061.6
p.W177*
c.531G>A
1 paper
NM_020061.6
p.W177*
c.530G>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."