Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.A219S

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.A219S
c.655G>T
Surrounding Variants
3 papers
NM_000273.3
p.A208_T218del11
c.622_653del33
5 papers
NM_000273.3
p.V220Splc
c.658+1G>T
13 papers
NM_000273.3
p.V220Splc
c.658+1G>A
4 papers
NM_000273.3
p.V220Splc
c.658+2T>G
1 paper
NM_000273.3
p.V220Splc
c.658+2T>C
1 paper
NM_000273.3
p.V217delFs
c.649delC
3 papers
NM_000273.3
p.I211_K215delFs
c.633_643del11
4 papers
NM_000273.3
p.K215_T216ins6
c.643_647ins18
3 papers
NM_000273.3
p.Q214*
c.640C>T
1 paper
NM_000273.3
p.V207_L212del0
c.619_636del18
1 paper
NM_000273.3
p.L212P
c.635T>C
3 papers
NM_000273.3
p.L212fs
c.634_635fs
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."