Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.S133N

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.S133N
c.398G>A
Surrounding Variants
2 papers
NM_004224.3
p.S133T
c.398G>C
1 paper
NM_004224.3
p.L134delFs
c.400delC
1 paper
NM_004224.3
p.H132P
c.395A>C
1 paper
NM_004224.3
p.S133_L134del2
c.397_401del6
2 papers
NM_004224.3
p.Q135insFs
c.403_404insC
1 paper
NM_004224.3
p.H132D
c.394C>G
1 paper
NM_004224.3
p.L134L
c.402C>G
1 paper
NM_004224.3
p.H132Y
c.394C>T
1 paper
NM_004224.3
p.C131*
c.393C>A
1 paper
NM_004224.3
p.Q135*
c.403C>T
1 paper
NM_004224.3
p.Q135delFs
c.404delA
1 paper
NM_004224.3
p.Q135P
c.404A>C
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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."