Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.R219C

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.R219C
c.655C>T
Surrounding Variants
1 paper
NM_004224.3
p.R219H
c.656G>A
1 paper
NM_004224.3
p.A218V
c.653C>T
1 paper
NM_004224.3
p.D220del1
c.658_660delGAC
2 papers
NM_004224.3
p.D220N
c.658G>A
1 paper
NM_004224.3
p.A218T
c.652G>A
1 paper
NM_004224.3
p.A218fs
c.652_653fs
1 paper
NM_004224.3
p.D220A
c.659A>C
1 paper
NM_004224.3
p.D220E
c.660C>A
1 paper
NM_004224.3
p.A217G
c.650C>G
1 paper
NM_004224.3
p.D220E
c.660C>G
2 papers
NM_004224.3
p.D220D
c.660C>T
1 paper
NM_004224.3
p.P221A
c.661C>G
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