Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.K243E

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.K243E
c.727A>G
Surrounding Variants
1 paper
NM_000273.3
p.I242fs
c.724_725fs
4 papers
NM_000273.3
p.I244V
c.730A>G
1 paper
NM_000273.3
p.V241insFs
c.723dupG
1 paper
NM_000273.3
p.A240delFs
c.720delG
22 papers
NM_000273.3
p.R245*
c.733C>T
1 paper
NM_000273.3
p.R245fs
c.733_734fs
1 paper
NM_000273.3
p.R245delFs
c.733delG
1 paper
NM_000273.3
p.F247L
c.739T>C
1 paper
NM_000273.3
p.R237_M238del1
c.710_712delTCC
1 paper
NM_000273.3
p.F247L
c.741C>G
1 paper
NM_000273.3
p.F247L
c.741C>A
1 paper
NM_000273.3
p.M238fs
c.712_713fs
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