Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.Q25_P26delFs

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.Q25_P26delFs
c.74_78del5
Surrounding Variants
1 paper
NM_000273.3
p.Q25insFs
c.74_75insT
1 paper
NM_000273.3
p.Q25*
c.73C>T
1 paper
NM_000273.3
p.F24F
c.72C>T
2 papers
NM_000273.3
p.F24_Q25insFs
c.72_73insAA
1 paper
NM_000273.3
p.F29L
c.87C>A
1 paper
NM_000273.3
p.S23delFs
c.69delG
1 paper
NM_000273.3
p.H30D
c.88C>G
1 paper
NM_000273.3
p.L20_F29del10
c.58_86del30
1 paper
NM_000273.3
p.H30H
c.90C>T
1 paper
NM_000273.3
p.L32R
c.95T>G
1 paper
NM_000273.3
p.R14_V21delFs
c.42_61del20
3 papers
NM_000273.3
p.V21_L22insG
c.61_65ins3
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