Varaico: Literature-Extracted Genetic Variants

Gene:OPN1LW
Variant:p.S143S

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.S143S
c.429T>C
Surrounding Variants
2 papers
NM_020061.6
p.S143P
c.427T>C
1 paper
NM_020061.6
p.A145fs
c.433_434fs
1 paper
NM_020061.6
p.A145fs
c.433_434fs
1 paper
NM_020061.6
p.L141I
c.421C>A
1 paper
NM_020061.6
p.G140S
c.418G>A
1 paper
NM_020061.6
p.G140_L141del1
c.419_421delGTC
1 paper
NM_020061.6
p.S143_A145insFs
c.427_433dup7
1 paper
NM_020061.6
p.I138fs
c.412_413fs
1 paper
NM_020061.6
p.W149_E150del1
c.447_449delGGA
1 paper
NM_020061.6
p.G137E
c.410G>A
1 paper
NM_020061.6
p.E150D
c.450G>C
4 papers
NM_020061.6
p.R151R
c.453A>G
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