Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.R52fs

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.R52fs
c.154_155fs
Surrounding Variants
1 paper
NM_000273.3
p.G51D
c.152G>A
1 paper
NM_000273.3
p.R53fs
c.157_158fs
2 papers
NM_000273.3
p.R53delFs
c.157delG
1 paper
NM_000273.3
p.P50S
c.148C>T
3 papers
NM_000273.3
p.R52_P54delFs
c.155_161del7
3 papers
NM_000273.3
p.P54delFs
c.162delG
7 papers
NM_000273.3
p.A55fs
c.163_164fs
3 papers
NM_000273.3
p.P57insFs
c.169_170ins8
1 paper
NM_000273.3
p.L43_L46delFs
c.128_138del11
4 papers
NM_000273.3
p.P57fs
c.169_170fs
3 papers
NM_000273.3
p.A55_P57insFs
c.163_170dup8
2 papers
NM_000273.3
p.A55_P57delFs
c.163_170del8
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