Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.D227A

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.D227A
c.680A>C
Surrounding Variants
2 papers
NM_004224.3
p.D227E
c.681C>A
1 paper
NM_004224.3
p.D227N
c.679G>A
1 paper
NM_004224.3
p.D227Y
c.679G>T
1 paper
NM_004224.3
p.N228insFs
c.682_683insC
1 paper
NM_004224.3
p.N228S
c.683A>G
1 paper
NM_004224.3
p.P226H
c.677C>A
2 papers
NM_004224.3
p.P226L
c.677C>T
1 paper
NM_004224.3
p.N228K
c.684C>A
1 paper
NM_004224.3
p.N228K
c.684C>G
1 paper
NM_004224.3
p.P226delFs
c.677delC
1 paper
NM_004224.3
p.Q229R
c.686A>G
1 paper
NM_004224.3
p.Q229L
c.686A>T
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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."