Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.L6P

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
4 papers
NM_000273.3
p.L6P
c.17T>C
Surrounding Variants
1 paper
NM_000273.3
p.L6R
c.17T>G
1 paper
NM_000273.3
p.L6fs
c.16_17fs
1 paper
NM_000273.3
p.G7V
c.20G>T
6 papers
NM_000273.3
p.R5P
c.14G>C
8 papers
NM_000273.3
p.R5C
c.13C>T
1 paper
NM_000273.3
p.P4fs
c.10_11fs
2 papers
NM_000273.3
p.P4delFs
c.11delG
3 papers
NM_000273.3
p.T8fs
c.22_23fs
3 papers
NM_000273.3
p.G7_T8insFs
c.21_22insG
6 papers
NM_000273.3
p.P4R
c.11C>G
2 papers
NM_000273.3
p.P4fs
c.10_11fs
1 paper
NM_000273.3
p.M1_S3delFs
c.3_9del7
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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."