Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.W133R

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
13 papers
NM_000273.3
p.W133R
c.397T>A
Surrounding Variants
13 papers
NM_000273.3
p.W133R
c.397T>C
2 papers
NM_000273.3
p.W132R
c.394T>C
2 papers
NM_000273.3
p.W132R
c.394T>A
4 papers
NM_000273.3
p.L134P
c.401T>C
1 paper
NM_000273.3
p.F131V
c.391T>G
3 papers
NM_000273.3
p.L134delFs
c.402delC
1 paper
NM_000273.3
p.C136R
c.406T>C
2 papers
NM_000273.3
p.C136fs
c.406_407fs
1 paper
NM_000273.3
p.A138T
c.412G>A
1 paper
NM_000273.3
p.Y127delFs
c.381delG
7 papers
NM_000273.3
p.A138V
c.413C>T
1 paper
NM_000273.3
p.V139L
c.415G>C
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