Varaico: Literature-Extracted Genetic Variants

Gene:OPN1LW
Variant:p.F275L

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.F275L
c.825T>A
Surrounding Variants
1 paper
NM_020061.6
p.F275L
c.825T>G
1 paper
NM_020061.6
p.F275L
c.823T>C
1 paper
NM_020061.6
p.I274V
c.820A>G
4 papers
NM_020061.6
p.Y277F
c.830A>T
2 papers
NM_020061.6
p.M273K
c.818T>A
1 paper
NM_020061.6
p.V279F
c.835G>T
1 paper
NM_020061.6
p.V272A
c.815T>C
2 papers
NM_020061.6
p.V272M
c.814G>A
1 paper
NM_020061.6
p.V272L
c.814G>C
1 paper
NM_020061.6
p.V272L
c.814G>T
1 paper
NM_020061.6
p.C280_W281insFs
c.840_841insT
1 paper
NM_020061.6
p.W281*
c.842G>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."