Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.W111C

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.W111C
c.333G>T
Surrounding Variants
1 paper
NM_000273.3
p.W111C
c.333G>C
9 papers
NM_000273.3
p.W111*
c.333G>A
6 papers
NM_000273.3
p.W111*
c.332G>A
1 paper
NM_000273.3
p.N106_W111del6
c.316_332del18
1 paper
NM_000273.3
p.P112insFs
c.335dupC
1 paper
NM_000273.3
p.P112delFs
c.334delG
1 paper
NM_000273.3
p.I110N
c.329T>A
1 paper
NM_000273.3
p.A113fs
c.337_338fs
1 paper
NM_000273.3
p.I110delFs
c.328delT
1 paper
NM_000273.3
p.A114fs
c.340_341fs
1 paper
NM_000273.3
p.E109K
c.325G>A
1 paper
NM_000273.3
p.A114delFs
c.340delC
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."