Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.P60fs

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
2 papers
NM_000273.3
p.P60fs
c.178_179fs
Surrounding Variants
1 paper
NM_000273.3
p.P60insFs
c.178_179ins7
2 papers
NM_000273.3
p.S59delFs
c.175delA
1 paper
NM_000273.3
p.L45_P60delFs
c.134_179del46
1 paper
NM_000273.3
p.G51_G58del8
c.151_173del24
4 papers
NM_000273.3
p.P60insFs
c.180dupC
4 papers
NM_000273.3
p.A61fs
c.181_182fs
2 papers
NM_000273.3
p.S59fs
c.175_176fs
1 paper
NM_000273.3
p.G58_A61insFs
c.174_181dup8
1 paper
NM_000273.3
p.T62M
c.185C>T
3 papers
NM_000273.3
p.A55_P57insFs
c.163_170dup8
2 papers
NM_000273.3
p.A55_P57delFs
c.163_170del8
3 papers
NM_000273.3
p.P57insFs
c.169_170ins8
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