Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.R237_M238del1

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.R237_M238del1
c.710_712delTCC
Surrounding Variants
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.E235D
c.705G>T
1 paper
NM_000273.3
p.A240delFs
c.720delG
3 papers
NM_000273.3
p.E235Q
c.703G>C
21 papers
NM_000273.3
p.E235K
c.703G>A
1 paper
NM_000273.3
p.I242fs
c.724_725fs
1 paper
NM_000273.3
p.V241insFs
c.723dupG
1 paper
NM_000273.3
p.E233del1
c.697_698delCTC
1 paper
NM_000273.3
p.K243E
c.727A>G
6 papers
NM_000273.3
p.E233K
c.697G>A
4 papers
NM_000273.3
p.I244V
c.730A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."