Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.C33Y

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.C33Y
c.98G>A
Surrounding Variants
1 paper
NM_000273.3
p.C33F
c.98G>T
1 paper
NM_000273.3
p.L34L
c.100C>T
1 paper
NM_000273.3
p.L32R
c.95T>G
3 papers
NM_000273.3
p.L34P
c.101T>C
12 papers
NM_000273.3
p.G35D
c.104G>A
1 paper
NM_000273.3
p.H30H
c.90C>T
1 paper
NM_000273.3
p.S36R
c.106A>C
1 paper
NM_000273.3
p.G35_S36delins
c.104_106delinsGAC
1 paper
NM_000273.3
p.L20_F29del10
c.58_86del30
1 paper
NM_000273.3
p.S36R
c.108C>G
1 paper
NM_000273.3
p.H30D
c.88C>G
1 paper
NM_000273.3
p.S36R
c.108C>A
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