Varaico: Literature-Extracted Genetic Variants

Gene:OPN1LW
Variant:p.V104I

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.V104I
c.310G>A
Surrounding Variants
1 paper
NM_020061.6
p.E102K
c.304G>A
1 paper
NM_020061.6
p.A106T
c.316G>A
1 paper
NM_020061.6
p.S107_S110del4
c.319_329del12
2 papers
NM_020061.6
p.L100L
c.300A>G
1 paper
NM_020061.6
p.L100P
c.299T>C
1 paper
NM_020061.6
p.L100V
c.298C>G
1 paper
NM_020061.6
p.D99A
c.296A>C
1 paper
NM_020061.6
p.A98A
c.294T>C
2 papers
NM_020061.6
p.I111V
c.331A>G
1 paper
NM_020061.6
p.A96V
c.287C>T
1 paper
NM_020061.6
p.V112delFs
c.334delG
1 paper
NM_020061.6
p.V112E
c.335T>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."