Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.P54_A66delFs

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
4 papers
NM_000273.3
p.P54_A66delFs
c.162_198del37
Surrounding Variants
2 papers
NM_000273.3
p.A55_P65delFs
c.165_193del29
1 paper
NM_000273.3
p.P65A
c.193C>G
2 papers
NM_000273.3
p.P64delFs
c.190delG
1 paper
NM_000273.3
p.P64fs
c.190_191fs
2 papers
NM_000273.3
p.I70fs
c.208_209fs
1 paper
NM_000273.3
p.T62M
c.185C>T
4 papers
NM_000273.3
p.R72fs
c.214_215fs
4 papers
NM_000273.3
p.R72ins2
c.215_216ins6
1 paper
NM_000273.3
p.G58_A61insFs
c.174_181dup8
1 paper
NM_000273.3
p.A73fs
c.217_218fs
4 papers
NM_000273.3
p.P60insFs
c.180dupC
4 papers
NM_000273.3
p.A61fs
c.181_182fs
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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."