Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.L206L

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.L206L
c.618C>G
Surrounding Variants
1 paper
NM_000273.3
p.L206insFs
c.616_617insC
1 paper
NM_000273.3
p.V207M
c.619G>A
4 papers
NM_000273.3
p.A208E
c.623C>A
2 papers
NM_000273.3
p.P210T
c.628C>A
4 papers
NM_000273.3
p.P210L
c.629C>T
1 paper
NM_000273.3
p.L202Q
c.605T>A
3 papers
NM_000273.3
p.L212fs
c.634_635fs
3 papers
NM_000273.3
p.P201L
c.602C>T
1 paper
NM_000273.3
p.L212P
c.635T>C
1 paper
NM_000273.3
p.P201S
c.601C>T
2 papers
NM_000273.3
p.P201insFs
c.601_602insT
1 paper
NM_000273.3
p.L200insFs
c.599dupT
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