Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.A73fs

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
1 paper
NM_000273.3
p.A73fs
c.217_218fs
Surrounding Variants
3 papers
NM_000273.3
p.I70_A73delFs
c.208_218del11
4 papers
NM_000273.3
p.R72ins2
c.215_216ins6
1 paper
NM_000273.3
p.A74_A75insT
c.220_224ins3
4 papers
NM_000273.3
p.R72fs
c.214_215fs
1 paper
NM_000273.3
p.A74A
c.222C>T
1 paper
NM_000273.3
p.A74delFs
c.221_222delGG
2 papers
NM_000273.3
p.I70fs
c.208_209fs
3 papers
NM_000273.3
p.A76ins2
c.227_228ins6
1 paper
NM_000273.3
p.A76A
c.228C>G
1 paper
NM_000273.3
p.A76_C77ins2
c.228_229ins6
3 papers
NM_000273.3
p.A75_A76ins0
c.223_228dup6
1 paper
NM_000273.3
p.A75_A76del0
c.223_228del6
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."