Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.E235K

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
21 papers
NM_000273.3
p.E235K
c.703G>A
Surrounding Variants
3 papers
NM_000273.3
p.E235Q
c.703G>C
1 paper
NM_000273.3
p.E235D
c.705G>T
1 paper
NM_000273.3
p.E233del1
c.697_698delCTC
6 papers
NM_000273.3
p.E233K
c.697G>A
1 paper
NM_000273.3
p.T232M
c.695C>T
1 paper
NM_000273.3
p.T232R
c.695C>G
9 papers
NM_000273.3
p.T232K
c.695C>A
1 paper
NM_000273.3
p.M238fs
c.712_713fs
1 paper
NM_000273.3
p.R237delFs
c.711delC
1 paper
NM_000273.3
p.R237_M238del1
c.710_712delTCC
1 paper
NM_000273.3
p.Y231*
c.693C>G
1 paper
NM_000273.3
p.Y231*
c.693C>A
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