Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.S152Splc

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
4 papers
NM_000273.3
p.S152Splc
c.455+3A>G
Surrounding Variants
3 papers
NM_000273.3
p.S152Splc
c.455+1G>C
2 papers
NM_000273.3
p.S152Splc
c.455+1G>A
2 papers
NM_000273.3
p.S152T
c.455G>C
3 papers
NM_000273.3
p.S152N
c.455G>A
1 paper
NM_000273.3
p.R147_A149insFs
c.439_445dup7
1 paper
NM_000273.3
p.A149insFs
c.445_446ins7
1 paper
NM_000273.3
p.A149fs
c.445_446fs
1 paper
NM_000273.3
p.S148L
c.443C>T
1 paper
NM_000273.3
p.R146W
c.436C>T
1 paper
NM_000273.3
p.V144V
c.432G>C
1 paper
NM_000273.3
p.Y142F
c.425A>T
1 paper
NM_000273.3
p.V139delFs
c.415delC
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