Varaico: Literature-Extracted Genetic Variants

Gene:OPN1LW
Variant:p.M325V

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.M325V
c.973A>G
Surrounding Variants
1 paper
NM_020061.6
p.F324Y
c.971T>A
1 paper
NM_020061.6
p.F324I
c.970T>A
1 paper
NM_020061.6
p.R327W
c.979C>T
1 paper
NM_020061.6
p.V323L
c.967G>C
1 paper
NM_020061.6
p.I321fs
c.961_962fs
1 paper
NM_020061.6
p.I321delFs
c.962delT
1 paper
NM_020061.6
p.V320D
c.959T>A
1 paper
NM_020061.6
p.P319_I321delins
c.955_963delinsACCAAT
1 paper
NM_020061.6
p.Q328_F329Splc
c.984+9C>G
1 paper
NM_020061.6
p.T315T
c.945T>A
2 papers
NM_020061.6
p.T315I
c.944C>T
1 paper
NM_020061.6
p.A314del1
c.940_942delGCC
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