Varaico: Literature-Extracted Genetic Variants

Gene:OPN1LW
Variant:p.V112E

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.V112E
c.335T>A
Surrounding Variants
1 paper
NM_020061.6
p.V112V
c.336G>A
1 paper
NM_020061.6
p.V112delFs
c.334delG
2 papers
NM_020061.6
p.I111V
c.331A>G
2 papers
NM_020061.6
p.S116Y
c.347C>A
1 paper
NM_020061.6
p.S116C
c.347C>G
1 paper
NM_020061.6
p.G117S
c.349G>A
1 paper
NM_020061.6
p.Y118fs
c.352_353fs
1 paper
NM_020061.6
p.Y118C
c.353A>G
1 paper
NM_020061.6
p.Y118F
c.353A>T
1 paper
NM_020061.6
p.S107_S110del4
c.319_329del12
1 paper
NM_020061.6
p.A106T
c.316G>A
1 paper
NM_020061.6
p.V104I
c.310G>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."