Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.C256Splc

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.C256Splc
c.767+1G>A
Surrounding Variants
1 paper
NM_000273.3
p.C256F
c.767G>T
1 paper
NM_000273.3
p.C256S
c.766T>A
1 paper
NM_000273.3
p.C256fs
c.766_767fs
6 papers
NM_000273.3
p.C256Splc
c.767+10C>G
2 papers
NM_000273.3
p.L253*
c.758T>A
1 paper
NM_000273.3
p.I249insFs
c.745dupA
1 paper
NM_000273.3
p.F247L
c.741C>G
1 paper
NM_000273.3
p.F247L
c.741C>A
1 paper
NM_000273.3
p.F247L
c.739T>C
1 paper
NM_000273.3
p.R245delFs
c.733delG
22 papers
NM_000273.3
p.R245*
c.733C>T
1 paper
NM_000273.3
p.R245fs
c.733_734fs
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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."