Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.S3_P12delFs

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.S3_P12delFs
c.7_34del28
Surrounding Variants
1 paper
NM_000273.3
p.C11delFs
c.32delC
2 papers
NM_000273.3
p.P4_P12delFs
c.12_36del25
1 paper
NM_000273.3
p.G7_C10delFs
c.20_29del10
2 papers
NM_000273.3
p.C10Y
c.29G>A
1 paper
NM_000273.3
p.S3_F9del7
c.7_26del21
1 paper
NM_000273.3
p.D15fs
c.43_44fs
1 paper
NM_000273.3
p.A16E
c.47C>A
3 papers
NM_000273.3
p.T8fs
c.22_23fs
3 papers
NM_000273.3
p.G7_T8insFs
c.21_22insG
1 paper
NM_000273.3
p.G7V
c.20G>T
6 papers
NM_000273.3
p.D15_A17insFs
c.43_50dup8
1 paper
NM_000273.3
p.A17fs
c.49_50fs
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