Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.L83P

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.L83P
c.248T>C
Surrounding Variants
2 papers
NM_000273.3
p.G84R
c.250G>C
3 papers
NM_000273.3
p.C77_L83delFs
c.231_249del19
2 papers
NM_000273.3
p.G84Splc
c.250+1G>C
3 papers
NM_000273.3
p.G84Splc
c.250+1G>A
4 papers
NM_000273.3
p.G81V
c.242G>T
4 papers
NM_000273.3
p.G81C
c.241G>T
1 paper
NM_000273.3
p.L80_G81insFs
c.240_241insC
4 papers
NM_000273.3
p.G81R
c.241G>C
8 papers
NM_000273.3
p.L80del1
c.238_240delGAG
1 paper
NM_000273.3
p.L79_L80del1
c.237_239delAGA
1 paper
NM_000273.3
p.L79P
c.236T>C
1 paper
NM_000273.3
p.A74_D78del5
c.220_233del15
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