Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.L168_C169delFs

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.L168_C169delFs
c.504_505delAG
Surrounding Variants
3 papers
NM_000273.3
p.C169_V170ins8
c.505_509ins24
1 paper
NM_000273.3
p.T166_C169del0
c.498_506del9
1 paper
NM_000273.3
p.C169del1
c.505_507delACA
2 papers
NM_000273.3
p.L167delFs
c.499delG
1 paper
NM_000273.3
p.G163_V170del8
c.487_509del24
1 paper
NM_000273.3
p.E171E
c.513G>A
2 papers
NM_000273.3
p.L167fs
c.499_500fs
3 papers
NM_000273.3
p.G172R
c.514G>C
3 papers
NM_000273.3
p.G172R
c.514G>A
3 papers
NM_000273.3
p.T166N
c.497C>A
1 paper
NM_000273.3
p.T166A
c.496A>G
1 paper
NM_000273.3
p.A173G
c.518C>G
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