Varaico: Literature-Extracted Genetic Variants

Gene:OPN4
Variant:p.A124fs

OPN4

247 papers

RefSeq Summary

Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This gene encodes a photoreceptive opsin protein that is expressed within the ganglion and amacri...

Pfam Domains

7tm_1aa 87–350UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

opsin 4

HGNC Alias Symbols

MOP; melanopsin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_033282.4
p.A124fs
c.370_371fs
Surrounding Variants
1 paper
NM_033282.4
p.Q123L
c.368A>T
2 papers
NM_033282.4
p.Q123delFs
c.369delG
1 paper
NM_033282.4
p.Q123fs
c.367_368fs
1 paper
NM_033282.4
p.Q123*
c.367C>T
1 paper
NM_033282.4
p.V126L
c.376G>C
1 paper
NM_033282.4
p.F127_F128ins1
c.381_382insATC
1 paper
NM_033282.4
p.T129S
c.385A>T
1 paper
NM_033282.4
p.S130C
c.388A>T
1 paper
NM_033282.4
p.K134delFs
c.402delG
1 paper
NM_033282.4
p.L112I
c.334C>A
1 paper
NM_001030015.3
p.N122H
c.364A>C
1 paper
NM_033282.4
p.G139G
c.417G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."