Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.A76A

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.A76A
c.228C>G
Surrounding Variants
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
3 papers
NM_000273.3
p.A76ins2
c.227_228ins6
2 papers
NM_000273.3
p.C77fs
c.229_230fs
1 paper
NM_000273.3
p.R72_C77delFs
c.215_230del16
9 papers
NM_000273.3
p.D78N
c.232G>A
1 paper
NM_000273.3
p.A74delFs
c.221_222delGG
8 papers
NM_000273.3
p.D78V
c.233A>T
1 paper
NM_000273.3
p.R72_D78delFs
c.216_232del17
3 papers
NM_000273.3
p.R72_D78delFs
c.214_232del19
1 paper
NM_000273.3
p.A74A
c.222C>T
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."