Varaico: Literature-Extracted Genetic Variants

Gene:OPN1SW
Variant:p.M1R

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.M1R
c.2T>G
Surrounding Variants
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
1 paper
NM_001385125.1
p.N11Y
c.31A>T
1 paper
NM_001385125.1
p.G20E
c.59G>A
1 paper
NM_001385125.1
p.G20G
c.60G>A
1 paper
NM_001385125.1
p.Y23N
c.67T>A
1 paper
NM_001385125.1
p.I25V
c.73A>G
1 paper
NM_001385125.1
p.A26insFs
c.76dupG
1 paper
NM_001385125.1
p.P27L
c.80C>T
1 paper
NM_001385125.1
p.L33I
c.97C>A
1 paper
NM_001385125.1
p.A36A
c.108T>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."