Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.M1_S3delFs

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.M1_S3delFs
c.3_9del7
Surrounding Variants
2 papers
NM_000273.3
p.P4fs
c.10_11fs
6 papers
NM_000273.3
p.P4R
c.11C>G
1 paper
NM_000273.3
p.S3S
c.9C>G
1 paper
NM_000273.3
p.S3fs
c.7_8fs
1 paper
NM_000273.3
p.P4fs
c.10_11fs
2 papers
NM_000273.3
p.P4delFs
c.11delG
1 paper
NM_000273.3
p.S3C
c.8C>G
3 papers
NM_000273.3
p.A2delFs
c.6delG
8 papers
NM_000273.3
p.R5C
c.13C>T
3 papers
NM_000273.3
p.S3fs
c.7_8fs
6 papers
NM_000273.3
p.R5P
c.14G>C
1 paper
NM_000273.3
p.A2T
c.4G>A
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