Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.M105V

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.M105V
c.313A>G
Surrounding Variants
2 papers
NM_000273.3
p.S101_M105delFs
c.303_313del11
4 papers
NM_000273.3
p.D104delFs
c.310delC
2 papers
NM_000273.3
p.D104fs
c.310_311fs
3 papers
NM_000273.3
p.N97_S103insFs
c.291_309dup19
1 paper
NM_000273.3
p.N106D
c.316A>G
1 paper
NM_000273.3
p.S103L
c.308C>T
2 papers
NM_000273.3
p.V102fs
c.304_305fs
2 papers
NM_000273.3
p.T108M
c.323C>T
1 paper
NM_000273.3
p.E109K
c.325G>A
1 paper
NM_000273.3
p.D100N
c.298G>A
1 paper
NM_000273.3
p.I110N
c.329T>A
1 paper
NM_000273.3
p.I110delFs
c.328delT
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