Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.R143H

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.R143H
c.428G>A
Surrounding Variants
2 papers
NM_004224.3
p.R143C
c.427C>T
1 paper
NM_004224.3
p.R143insFs
c.427_428insC
1 paper
NM_004224.3
p.N144S
c.431A>G
3 papers
NM_004224.3
p.V142E
c.425T>A
1 paper
NM_004224.3
p.V142M
c.424G>A
1 paper
NM_004224.3
p.V142insFs
c.424_425ins16
1 paper
NM_004224.3
p.N144K
c.432T>A
1 paper
NM_004224.3
p.N144K
c.432T>G
1 paper
NM_004224.3
p.T145P
c.433A>C
1 paper
NM_004224.3
p.T145A
c.433A>G
2 papers
NM_004224.3
p.S141R
c.423T>A
1 paper
NM_004224.3
p.S141R
c.423T>G
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