Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.E299A

GPR50

2,970 papers

RefSeq Summary

This gene product belongs to the G-protein coupled receptor 1 family. Even though this protein shares similarity with the melatonin receptors, it does not bind melatonin, however, it inhibits melatoni...

Pfam Domains

7tm_1aa 45–294UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

G protein-coupled receptor 50

HGNC Alias Symbols

H9; Mel1c

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004224.3
p.E299A
c.896A>C
Surrounding Variants
1 paper
NM_004224.3
p.E299K
c.895G>A
1 paper
NM_004224.3
p.E299Q
c.895G>C
1 paper
NM_004224.3
p.N300_T307insFs
c.899_921dup23
4 papers
NM_004224.3
p.N300D
c.898A>G
1 paper
NM_004224.3
p.N298_E299insFs
c.894_895insG
2 papers
NM_004224.3
p.N298S
c.893A>G
1 paper
NM_004224.3
p.L297H
c.890T>A
1 paper
NM_004224.3
p.L297P
c.890T>C
1 paper
NM_004224.3
p.F301S
c.902T>C
1 paper
NM_004224.3
p.L296L
c.888C>T
1 paper
NM_004224.3
p.R302*
c.904C>T
2 papers
NM_004224.3
p.R302Q
c.905G>A
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."