Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.D344E

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.D344E
c.1032C>A
Surrounding Variants
1 paper
NM_004224.3
p.D344E
c.1032C>G
1 paper
NM_004224.3
p.Q345insFs
c.1034_1035insG
1 paper
NM_004224.3
p.Q345H
c.1035A>C
1 paper
NM_004224.3
p.Q345H
c.1035A>T
1 paper
NM_004224.3
p.R343P
c.1028G>C
1 paper
NM_004224.3
p.R343S
c.1027C>A
3 papers
NM_004224.3
p.A346V
c.1037C>T
3 papers
NM_004224.3
p.R347G
c.1039C>G
1 paper
NM_004224.3
p.A342V
c.1025C>T
1 paper
NM_004224.3
p.A342S
c.1024G>T
1 paper
NM_004224.3
p.H341H
c.1023T>C
1 paper
NM_004224.3
p.R347_E348delins
c.1041_1044delinsT
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