Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.L223*

GPR143

203 papers

RefSeq Summary

This gene encodes a protein that binds to heterotrimeric G proteins and is targeted to melanosomes in pigment cells. This protein is thought to be involved in intracellular signal transduction mechani...

Pfam Domains

Ocular_albaa 1–396UCSCOcular albinism type 1 protein

Gene Aliases

HGNC Name

G protein-coupled receptor 143

HGNC Previous Symbol

OA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000273.3
p.L223*
c.668T>G
Surrounding Variants
1 paper
NM_000273.3
p.L223*
c.668T>A
1 paper
NM_000273.3
p.A221_S222del2
c.661_665del6
1 paper
NM_000273.3
p.S222P
c.664T>C
3 papers
NM_000273.3
p.K225E
c.673A>G
1 paper
NM_000273.3
p.S222_L224delFs
c.666_670del5
2 papers
NM_000273.3
p.V220delFs
c.660delC
1 paper
NM_000273.3
p.A221T
c.661G>A
1 paper
NM_000273.3
p.G226R
c.676G>A
1 paper
NM_000273.3
p.L224_K225del0
c.670_675del6
2 papers
NM_000273.3
p.G226fs
c.676_677fs
9 papers
NM_000273.3
p.V220Splc
c.659-1G>A
3 papers
NM_000273.3
p.G226delFs
c.677delC
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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."