Varaico: Literature-Extracted Genetic Variants

Gene:OPN1LW
Variant:p.A2V

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.A2V
c.5C>T
Surrounding Variants
1 paper
NM_020061.6
p.A2A
c.6C>A
1 paper
NM_020061.6
p.A2S
c.4G>T
1 paper
NM_020061.6
p.Q3_Q4delFs
c.8_11del4
1 paper
NM_020061.6
p.M1T
c.2T>C
1 paper
NM_020061.6
p.M1L
c.1A>T
1 paper
NM_020061.6
p.Q4H
c.12G>C
1 paper
NM_020061.6
p.W5Fs
c.13delinsATCACFs
1 paper
NM_020061.6
p.W5G
c.13T>G
1 paper
NM_020061.6
p.S6G
c.16A>G
1 paper
NM_020061.6
p.S6delFs
c.18delC
1 paper
NM_020061.6
p.L7L
c.21C>A
1 paper
NM_020061.6
p.R9K
c.26G>A
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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."