Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.G187fs

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
3 papers
NM_000273.3
p.G187fs
c.559_560fs
Surrounding Variants
1 paper
NM_000273.3
p.R186insFs
c.556dupC
2 papers
NM_000273.3
p.R186P
c.557G>C
1 paper
NM_000273.3
p.G187insFs
c.560dupG
3 papers
NM_000273.3
p.G187delFs
c.560delC
1 paper
NM_000273.3
p.L188fs
c.562_563fs
1 paper
NM_000273.3
p.R186fs
c.556_557fs
2 papers
NM_000273.3
p.R186W
c.556C>T
2 papers
NM_000273.3
p.E185K
c.553G>A
1 paper
NM_000273.3
p.D189N
c.565G>A
1 paper
NM_000273.3
p.H190insFs
c.569_570ins4
1 paper
NM_000273.3
p.A191delFs
c.573delG
1 paper
NM_000273.3
p.H194fs
c.580_581fs
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."