Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.W92fs

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
2 papers
NM_000273.3
p.W92fs
c.274_275fs
Surrounding Variants
2 papers
NM_000273.3
p.W92insFs
c.274_275insTA
4 papers
NM_000273.3
p.W92*
c.275G>A
5 papers
NM_000273.3
p.W92*
c.276G>A
1 paper
NM_000273.3
p.T90del1
c.268_269delGGT
1 paper
NM_000273.3
p.L93*
c.278T>G
2 papers
NM_000273.3
p.L93*
c.278T>A
1 paper
NM_000273.3
p.L93delFs
c.278delA
1 paper
NM_000273.3
p.G94*
c.280G>T
1 paper
NM_000273.3
p.S89S
c.267C>G
10 papers
NM_000273.3
p.S89F
c.266C>T
1 paper
NM_000273.3
p.S89P
c.265T>C
2 papers
NM_000273.3
p.R88Q
c.263G>A
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