Varaico: Literature-Extracted Genetic Variants

Gene:OPN1SW

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
1–12 of 81 variants
4 papers
NM_001385125.1
p.T190I
c.569C>T
3 papers
NM_001385125.1
p.G158S
c.472G>A
2 papers
NM_001385125.1
p.Y59F
c.176A>T
2 papers
NM_001385125.1
p.K61*
c.181A>T
2 papers
NM_001385125.1
p.L66F
c.196C>T
2 papers
NM_001385125.1
p.F86L
c.258C>A
2 papers
NM_001385125.1
p.T118A
c.352A>G
2 papers
NM_001385125.1
p.C256S
c.766T>A
1 paper
NM_001385125.1
p.M1R
c.2T>G
1 paper
NM_001385125.1
p.M1T
c.2T>C
1 paper
NM_001385125.1
p.S2T
c.4T>A
1 paper
NM_001385125.1
p.L8V
c.22C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."