Varaico: Literature-Extracted Genetic Variants

Gene:OPN1SW
Variant:p.F37S

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.F37S
c.110T>C
Surrounding Variants
1 paper
NM_001385125.1
p.A36A
c.108T>A
1 paper
NM_001385125.1
p.M38delFs
c.112delT
1 paper
NM_001385125.1
p.T40A
c.118A>G
1 paper
NM_001385125.1
p.L33I
c.97C>A
1 paper
NM_001385125.1
p.I44K
c.131T>A
1 paper
NM_001385125.1
p.P27L
c.80C>T
1 paper
NM_001385125.1
p.L48insFs
c.142_143ins44
1 paper
NM_001385125.1
p.A26insFs
c.76dupG
1 paper
NM_001385125.1
p.N49N
c.147T>C
1 paper
NM_001385125.1
p.I25V
c.73A>G
1 paper
NM_001385125.1
p.Y23N
c.67T>A
1 paper
NM_001385125.1
p.L53_V54ins1
c.159_160insTAA
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