Varaico: Literature-Extracted Genetic Variants

Gene:OPN1SW
Variant:p.T236P

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.T236P
c.706A>C
Surrounding Variants
1 paper
NM_001385125.1
p.T237I
c.710C>T
1 paper
NM_001385125.1
p.S254P
c.760T>C
2 papers
NM_001385125.1
p.C256S
c.766T>A
1 paper
NM_001385125.1
p.Y259H
c.775T>C
1 paper
NM_001385125.1
p.A266T
c.796G>A
1 paper
NM_001385125.1
p.M267V
c.799A>G
1 paper
NM_001385125.1
p.G276E
c.827G>A
1 paper
NM_001385125.1
p.D278G
c.833A>G
1 paper
NM_001385125.1
p.L281L
c.843T>C
1 paper
NM_001385125.1
p.D278_L281del4
c.832_842del12
1 paper
NM_001385125.1
p.S289_C293delFs
c.866_879del14
1 paper
NM_001385125.1
p.P297S
c.889C>T
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