Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.T166N

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.T166N
c.497C>A
Surrounding Variants
1 paper
NM_000273.3
p.T166A
c.496A>G
2 papers
NM_000273.3
p.L167fs
c.499_500fs
2 papers
NM_000273.3
p.L167delFs
c.499delG
6 papers
NM_000273.3
p.A165D
c.494C>A
1 paper
NM_000273.3
p.A161_G163delFs
c.482_488del7
3 papers
NM_000273.3
p.C169_V170ins8
c.505_509ins24
2 papers
NM_000273.3
p.W162delFs
c.485delC
5 papers
NM_000273.3
p.G163D
c.488G>A
3 papers
NM_000273.3
p.L168_C169delFs
c.504_505delAG
1 paper
NM_000273.3
p.T166_C169del0
c.498_506del9
1 paper
NM_000273.3
p.G163fs
c.487_488fs
1 paper
NM_000273.3
p.W162fs
c.484_485fs
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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."