Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.L43L

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
4 papers
NM_004224.3
p.L43L
c.129A>T
Surrounding Variants
1 paper
NM_004224.3
p.L43_I44insFs
c.129_130insC
1 paper
NM_004224.3
p.L43_I44insFs
c.129_130insT
1 paper
NM_004224.3
p.L43L
c.129A>C
1 paper
NM_004224.3
p.I44L
c.130A>C
1 paper
NM_004224.3
p.L43Q
c.128T>A
1 paper
NM_004224.3
p.L43P
c.128T>C
1 paper
NM_004224.3
p.L43V
c.127C>G
3 papers
NM_004224.3
p.I44I
c.132C>A
1 paper
NM_004224.3
p.G45delFs
c.133_134delGG
1 paper
NM_004224.3
p.D42ins1
c.125_126insATG
1 paper
NM_004224.3
p.D42A
c.125A>C
2 papers
NM_004224.3
p.D42V
c.125A>T
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