Varaico: Literature-Extracted Genetic Variants

Gene:OPN1LW
Variant:p.T78S

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.T78S
c.233C>G
Surrounding Variants
1 paper
NM_020061.6
p.T78_M79insFs
c.234_235insAA
1 paper
NM_020061.6
p.F81V
c.241T>G
1 paper
NM_020061.6
p.K82del1
c.244_246delAAG
4 papers
NM_020061.6
p.K82E
c.244A>G
1 paper
NM_020061.6
p.K83Q
c.247A>C
2 papers
NM_020061.6
p.K83E
c.247A>G
1 paper
NM_020061.6
p.K83*
c.247A>T
1 paper
NM_020061.6
p.K83T
c.248A>C
1 paper
NM_020061.6
p.L84L
c.250C>T
1 paper
NM_020061.6
p.N71K
c.213T>A
1 paper
NM_020061.6
p.N71K
c.213T>G
1 paper
NM_020061.6
p.H86Y
c.256C>T
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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."