Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.A42T

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.A42T
c.124G>A
Surrounding Variants
1 paper
NM_000273.3
p.A42A
c.126G>T
1 paper
NM_000273.3
p.R40_L41insFs
c.120_121insG
1 paper
NM_000273.3
p.G44R
c.130G>C
1 paper
NM_000273.3
p.G44S
c.130G>A
6 papers
NM_000273.3
p.L39R
c.116T>G
1 paper
NM_000273.3
p.L45fs
c.133_134fs
1 paper
NM_000273.3
p.G38R
c.112G>C
2 papers
NM_000273.3
p.G38R
c.112G>A
1 paper
NM_000273.3
p.G37D
c.110G>A
1 paper
NM_000273.3
p.L43_L46delFs
c.128_138del11
1 paper
NM_000273.3
p.S36R
c.108C>G
1 paper
NM_000273.3
p.S36R
c.108C>A
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