Varaico: Literature-Extracted Genetic Variants

Gene:OPN1SW
Variant:p.Y59F

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
2 papers
NM_001385125.1
p.Y59F
c.176A>T
Surrounding Variants
2 papers
NM_001385125.1
p.K61*
c.181A>T
1 paper
NM_001385125.1
p.K61E
c.181A>G
1 paper
NM_001385125.1
p.L62V
c.184T>G
1 paper
NM_001385125.1
p.L53_V54ins1
c.159_160insTAA
2 papers
NM_001385125.1
p.L66F
c.196C>T
1 paper
NM_001385125.1
p.N49N
c.147T>C
1 paper
NM_001385125.1
p.L48insFs
c.142_143ins44
1 paper
NM_001385125.1
p.S74P
c.220T>C
1 paper
NM_001385125.1
p.I44K
c.131T>A
1 paper
NM_001385125.1
p.S74F
c.221C>T
1 paper
NM_001385125.1
p.S74S
c.222C>A
1 paper
NM_001385125.1
p.G76V
c.227G>T
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