Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.Y157C

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
2 papers
NM_000273.3
p.Y157C
c.470A>G
Surrounding Variants
1 paper
NM_000273.3
p.L155P
c.464T>C
2 papers
NM_000273.3
p.L155delFs
c.463delG
2 papers
NM_000273.3
p.L155fs
c.463_464fs
1 paper
NM_000273.3
p.I154fs
c.460_461fs
1 paper
NM_000273.3
p.I154delFs
c.461delA
1 paper
NM_000273.3
p.M160insFs
c.479_480insT
1 paper
NM_000273.3
p.I154fs
c.460_461fs
1 paper
NM_000273.3
p.A161V
c.482C>T
1 paper
NM_000273.3
p.L155_A161del7
c.463_482del21
2 papers
NM_000273.3
p.S152Splc
c.456-1G>T
1 paper
NM_000273.3
p.S152T
c.455G>C
8 papers
NM_000273.3
p.S152N
c.455G>A
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."