Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.A120A

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
5 papers
NM_000273.3
p.A120A
c.360G>A
Surrounding Variants
6 papers
NM_000273.3
p.A120_M121Splc
c.360+1G>C
4 papers
NM_000273.3
p.A120_M121Splc
c.360+1G>A
1 paper
NM_000273.3
p.A120_M121Splc
c.360+2T>G
2 papers
NM_000273.3
p.A120_M121Splc
c.360+2T>C
1 paper
NM_000273.3
p.A120_M121Splc
c.360+2T>A
4 papers
NM_000273.3
p.A120_M121Splc
c.360+5G>T
3 papers
NM_000273.3
p.A120_M121Splc
c.360+5G>C
3 papers
NM_000273.3
p.A120_M121Splc
c.360+5G>A
20 papers
NM_000273.3
p.G118E
c.353G>A
2 papers
NM_000273.3
p.G118R
c.352G>C
2 papers
NM_000273.3
p.G118R
c.352G>A
3 papers
NM_000273.3
p.C116W
c.348C>G
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