Varaico: Literature-Extracted Genetic Variants

Gene:OPN1LW
Variant:p.S57R

OPN1LW

696 papers

RefSeq Summary

This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called red cone photopigment or long-wavelength sensitive opsin. Opsins are G-protein coupled re...

Pfam Domains

7tm_1aa 70–322UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

opsin 1, long wave sensitive

HGNC Previous Symbols

CBBM; RCP; CBP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020061.6
p.S57R
c.171T>A
Surrounding Variants
2 papers
NM_020061.6
p.V58F
c.172G>T
1 paper
NM_020061.6
p.S57fs
c.169_170fs
2 papers
NM_020061.6
p.T56delFs
c.168delC
1 paper
NM_020061.6
p.H54L
c.161A>T
1 paper
NM_020061.6
p.Y53_H54ins1
c.159_160insTAA
2 papers
NM_020061.6
p.Y53F
c.158A>T
1 paper
NM_020061.6
p.V63M
c.187G>A
1 paper
NM_020061.6
p.V52E
c.155T>A
1 paper
NM_020061.6
p.V52A
c.155T>C
1 paper
NM_020061.6
p.V52G
c.155T>G
2 papers
NM_020061.6
p.V63A
c.188T>C
1 paper
NM_020061.6
p.V63V
c.189G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."