Varaico: Literature-Extracted Genetic Variants

Gene:OPN1SW
Variant:p.F142L

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
1 paper
NM_001385125.1
p.F142L
c.426C>A
Surrounding Variants
1 paper
NM_001385125.1
p.F142L
c.426C>G
1 paper
NM_001385125.1
p.F142L
c.424T>C
1 paper
NM_001385125.1
p.S143T
c.428G>C
1 paper
NM_001385125.1
p.R141S
c.421C>A
1 paper
NM_001385125.1
p.N139K
c.417C>G
1 paper
NM_001385125.1
p.N139K
c.417C>A
1 paper
NM_001385125.1
p.A153V
c.458C>T
3 papers
NM_001385125.1
p.G158S
c.472G>A
1 paper
NM_001385125.1
p.I159_G160insTAA
c.475_479ins9
1 paper
NM_001385125.1
p.A123A
c.369C>T
1 paper
NM_001385125.1
p.W120G
c.358T>G
2 papers
NM_001385125.1
p.T118A
c.352A>G
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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."