Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.I230S

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.I230S
c.689T>G
Surrounding Variants
1 paper
NM_000273.3
p.I230V
c.688A>G
1 paper
NM_000273.3
p.Y231D
c.691T>G
3 papers
NM_000273.3
p.Y231H
c.691T>C
5 papers
NM_000273.3
p.G229V
c.686G>T
2 papers
NM_000273.3
p.Q228insFs
c.684dupA
1 paper
NM_000273.3
p.G229R
c.685G>C
1 paper
NM_000273.3
p.Y231*
c.693C>G
1 paper
NM_000273.3
p.Y231*
c.693C>A
2 papers
NM_000273.3
p.G229fs
c.685_686fs
1 paper
NM_000273.3
p.T232M
c.695C>T
1 paper
NM_000273.3
p.T232R
c.695C>G
9 papers
NM_000273.3
p.T232K
c.695C>A
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