Varaico: Literature-Extracted Genetic Variants

Gene:OPN1LW
Variant:p.V266M

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.V266M
c.796G>A
Surrounding Variants
1 paper
NM_020061.6
p.V266fs
c.796_797fs
1 paper
NM_020061.6
p.V266_T267delFs
c.797_801del5
1 paper
NM_020061.6
p.T267K
c.800C>A
1 paper
NM_020061.6
p.R268fs
c.802_803fs
1 paper
NM_020061.6
p.R268Fs
c.802_804delinsGFs
1 paper
NM_020061.6
p.E263A
c.788A>C
1 paper
NM_020061.6
p.A262P
c.784G>C
1 paper
NM_020061.6
p.Q260_K261insFs
c.780_781insA
2 papers
NM_020061.6
p.V272M
c.814G>A
1 paper
NM_020061.6
p.V272L
c.814G>C
1 paper
NM_020061.6
p.V272L
c.814G>T
1 paper
NM_020061.6
p.T259T
c.777C>A
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