Varaico: Literature-Extracted Genetic Variants

Gene:OPN4
Variant:p.T48P

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
1 paper
NM_033282.4
p.T48P
c.142A>C
Surrounding Variants
1 paper
NM_033282.4
p.T48S
c.142A>T
1 paper
NM_033282.4
p.P43A
c.127C>G
1 paper
NM_033282.4
p.L42P
c.125T>C
1 paper
NM_033282.4
p.R41Q
c.122G>A
1 paper
NM_033282.4
p.R41P
c.122G>C
1 paper
NM_033282.4
p.S34_S35del2
c.100_104del6
1 paper
NM_033282.4
p.S31insFs
c.91_92insC
1 paper
NM_033282.4
p.D30A
c.89A>C
1 paper
NM_033282.4
p.W28*
c.84G>A
2 papers
NM_033282.4
p.W28*
c.83G>A
1 paper
NM_033282.4
p.P26_S27insGCC
c.76_80ins9
1 paper
NM_033282.4
p.A21S
c.61G>T
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