Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.A55_P57delFs

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.A55_P57delFs
c.163_170del8
Surrounding Variants
3 papers
NM_000273.3
p.A55_P57insFs
c.163_170dup8
3 papers
NM_000273.3
p.P57insFs
c.169_170ins8
4 papers
NM_000273.3
p.P57fs
c.169_170fs
1 paper
NM_000273.3
p.G51_G58del8
c.151_173del24
2 papers
NM_000273.3
p.S59fs
c.175_176fs
2 papers
NM_000273.3
p.S59delFs
c.175delA
1 paper
NM_000273.3
p.P60insFs
c.178_179ins7
2 papers
NM_000273.3
p.P60fs
c.178_179fs
3 papers
NM_000273.3
p.P54delFs
c.162delG
7 papers
NM_000273.3
p.A55fs
c.163_164fs
3 papers
NM_000273.3
p.R52_P54delFs
c.155_161del7
1 paper
NM_000273.3
p.L45_P60delFs
c.134_179del46
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."