Varaico: Literature-Extracted Genetic Variants

Gene:OPN1SW
Variant:p.S74S

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.S74S
c.222C>A
Surrounding Variants
1 paper
NM_001385125.1
p.S74F
c.221C>T
1 paper
NM_001385125.1
p.S74P
c.220T>C
1 paper
NM_001385125.1
p.G76V
c.227G>T
1 paper
NM_001385125.1
p.G77A
c.230G>C
1 paper
NM_001385125.1
p.L80I
c.238C>A
1 paper
NM_001385125.1
p.I82L
c.244A>C
1 paper
NM_001385125.1
p.F83C
c.248T>G
2 papers
NM_001385125.1
p.L66F
c.196C>T
1 paper
NM_001385125.1
p.F86V
c.256T>G
1 paper
NM_001385125.1
p.F86L
c.256T>C
1 paper
NM_001385125.1
p.F86S
c.257T>C
1 paper
NM_001385125.1
p.F86Y
c.257T>A
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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."