Varaico: Literature-Extracted Genetic Variants

Gene:OPN1SW
Variant:p.F97L

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.F97L
c.289T>C
Surrounding Variants
1 paper
NM_001385125.1
p.F97L
c.291C>G
1 paper
NM_001385125.1
p.F97L
c.291C>A
1 paper
NM_001385125.1
p.G95V
c.284G>T
1 paper
NM_001385125.1
p.C93_N94delFs
c.278_281del4
1 paper
NM_001385125.1
p.S92N
c.275G>A
1 paper
NM_001385125.1
p.P87S
c.259C>T
1 paper
NM_001385125.1
p.F86L
c.258C>G
2 papers
NM_001385125.1
p.F86L
c.258C>A
1 paper
NM_001385125.1
p.F86S
c.257T>C
1 paper
NM_001385125.1
p.F86Y
c.257T>A
1 paper
NM_001385125.1
p.F86V
c.256T>G
1 paper
NM_001385125.1
p.F86L
c.256T>C
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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."