Varaico: Literature-Extracted Genetic Variants

Gene:OPN1SW
Variant:p.T190I

OPN1SW

140 papers

RefSeq Summary

This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vis...

Pfam Domains

7tm_1aa 48–300UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

opsin 1, short wave sensitive

HGNC Previous Symbol

BCP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001385125.1
p.T190I
c.569C>T
Surrounding Variants
1 paper
NM_001385125.1
p.S196P
c.586T>C
1 paper
NM_001385125.1
p.G182C
c.544G>T
1 paper
NM_001385125.1
p.S180A
c.538T>G
1 paper
NM_001385125.1
p.Q219_L221delFs
c.657_661del5
1 paper
NM_001385125.1
p.I159_G160insTAA
c.475_479ins9
3 papers
NM_001385125.1
p.G158S
c.472G>A
1 paper
NM_001385125.1
p.A153V
c.458C>T
1 paper
NM_001385125.1
p.S143T
c.428G>C
1 paper
NM_001385125.1
p.F142L
c.426C>G
1 paper
NM_001385125.1
p.F142L
c.426C>A
1 paper
NM_001385125.1
p.F142L
c.424T>C
1 paper
NM_001385125.1
p.R141S
c.421C>A
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