Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.D172N

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
3 papers
NM_004224.3
p.D172N
c.514G>A
Surrounding Variants
1 paper
NM_004224.3
p.D172A
c.515A>C
2 papers
NM_004224.3
p.Y171Y
c.513C>T
1 paper
NM_004224.3
p.Y171insFs
c.513dupC
1 paper
NM_004224.3
p.Y171F
c.512A>T
1 paper
NM_004224.3
p.P173A
c.517C>G
1 paper
NM_004224.3
p.P173fs
c.517_518fs
3 papers
NM_004224.3
p.P173L
c.518C>T
2 papers
NM_004224.3
p.E170A
c.509A>C
1 paper
NM_004224.3
p.R174C
c.520C>T
1 paper
NM_004224.3
p.E170K
c.508G>A
1 paper
NM_004224.3
p.E170Q
c.508G>C
1 paper
NM_004224.3
p.E170insFs
c.509_510insA
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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."