Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.I119L

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.I119L
c.355A>C
Surrounding Variants
1 paper
NM_004224.3
p.I119delFs
c.356delT
1 paper
NM_004224.3
p.I119N
c.356T>A
2 papers
NM_004224.3
p.I119T
c.356T>C
1 paper
NM_004224.3
p.N118S
c.353A>G
2 papers
NM_004224.3
p.N118I
c.353A>T
3 papers
NM_004224.3
p.N118D
c.352A>G
1 paper
NM_004224.3
p.V120A
c.359T>C
1 paper
NM_004224.3
p.V120V
c.360G>A
2 papers
NM_004224.3
p.A121P
c.361G>C
1 paper
NM_004224.3
p.I116M
c.348C>G
1 paper
NM_004224.3
p.A121V
c.362C>T
1 paper
NM_004224.3
p.I116S
c.347T>G
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