Varaico: Literature-Extracted Genetic Variants

Gene:OPN5
Variant:p.I200L

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.I200L
c.598A>C
Surrounding Variants
1 paper
NM_181744.4
p.L204_P211del8
c.610_632del24
1 paper
NM_181744.4
p.A213D
c.638C>A
1 paper
NM_181744.4
p.D173G
c.518A>G
1 paper
NM_181744.4
p.D237N
c.709G>A
1 paper
NM_181744.4
p.E247K
c.739G>A
1 paper
NM_181744.4
p.C152F
c.455G>T
1 paper
NM_181744.4
p.K252_V253Splc
c.756+1034C>T
1 paper
NM_181744.4
p.R131Q
c.392G>A
1 paper
NM_181744.4
p.G113*
c.337G>T
1 paper
NM_181744.4
p.S93Y
c.278C>A
1 paper
NM_181744.4
p.V84Splc
c.251-236T>A
1 paper
NM_181744.4
p.E69*
c.205G>T
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