Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.D100N

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.D100N
c.298G>A
Surrounding Variants
2 papers
NM_000273.3
p.V102fs
c.304_305fs
1 paper
NM_000273.3
p.S103L
c.308C>T
2 papers
NM_000273.3
p.D104fs
c.310_311fs
3 papers
NM_000273.3
p.N97_S103insFs
c.291_309dup19
1 paper
NM_000273.3
p.P96insFs
c.286_287insA
4 papers
NM_000273.3
p.D104delFs
c.310delC
1 paper
NM_000273.3
p.M105V
c.313A>G
2 papers
NM_000273.3
p.S101_M105delFs
c.303_313del11
1 paper
NM_000273.3
p.G94*
c.280G>T
1 paper
NM_000273.3
p.N106D
c.316A>G
1 paper
NM_000273.3
p.L93delFs
c.278delA
1 paper
NM_000273.3
p.L93*
c.278T>G
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."