Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.P179fs

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.P179fs
c.535_536fs
Surrounding Variants
1 paper
NM_000273.3
p.S180_V181insC
c.538_542ins3
1 paper
NM_000273.3
p.Y178*
c.534C>G
1 paper
NM_000273.3
p.Y178*
c.534C>A
1 paper
NM_000273.3
p.Y178_P179ins7
c.532_536ins21
3 papers
NM_000273.3
p.Y177*
c.531C>G
3 papers
NM_000273.3
p.Y177*
c.531C>A
2 papers
NM_000273.3
p.L176delFs
c.526_527delAG
2 papers
NM_000273.3
p.Y177fs
c.529_530fs
1 paper
NM_000273.3
p.L176fs
c.526_527fs
1 paper
NM_000273.3
p.R183Splc
c.548+1G>C
1 paper
NM_000273.3
p.R183Splc
c.548+2T>A
1 paper
NM_000273.3
p.R183Splc
c.548+4A>G
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