Varaico: Literature-Extracted Genetic Variants

Gene:OPN5
Variant:p.E69*

OPN5

35 papers

RefSeq Summary

Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This opsin gene is expressed in the eye, brain, testes, and spinal cord. This gene belongs to the...

Pfam Domains

7tm_1aa 50–306UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

opsin 5

HGNC Alias Symbols

neuropsin; dJ402H5.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_181744.4
p.E69*
c.205G>T
Surrounding Variants
1 paper
NM_181744.4
p.A68_M71delFs
c.204_211del8
1 paper
NM_181744.4
p.A68fs
c.202_203fs
1 paper
NM_181744.4
p.S59A
c.175T>G
1 paper
NM_181744.4
p.Y53fs
c.157_158fs
1 paper
NM_181744.4
p.D33Y
c.97G>T
1 paper
NM_181744.4
p.A32V
c.95C>T
1 paper
NM_181744.4
p.D22E
c.66T>G
1 paper
NM_181744.4
p.A2V
c.5C>T
1 paper
NM_181744.4
p.V84Splc
c.251-236T>A
1 paper
NM_181744.4
p.S93Y
c.278C>A
1 paper
NM_181744.4
p.G113*
c.337G>T
1 paper
NM_181744.4
p.R131Q
c.392G>A
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