Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.W292G

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
15 papers
NM_000273.3
p.W292G
c.874T>G
Surrounding Variants
2 papers
NM_000273.3
p.W292R
c.874T>C
2 papers
NM_000273.3
p.W292R
c.874T>A
1 paper
NM_000273.3
p.T291del1
c.871_872delTGT
5 papers
NM_000273.3
p.W292*
c.875G>A
4 papers
NM_000273.3
p.T290del1
c.868_869delGGT
5 papers
NM_000273.3
p.W292C
c.876G>T
5 papers
NM_000273.3
p.W292C
c.876G>C
5 papers
NM_000273.3
p.W292*
c.876G>A
1 paper
NM_000273.3
p.I294insFs
c.880_881insA
1 paper
NM_000273.3
p.M295R
c.884T>G
3 papers
NM_000273.3
p.M295_G296Splc
c.885+1G>T
3 papers
NM_000273.3
p.M295_G296Splc
c.885+1G>A
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