Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.V248L

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.V248L
c.742G>C
Surrounding Variants
1 paper
NM_004224.3
p.V248M
c.742G>A
1 paper
NM_004224.3
p.V248L
c.742G>T
1 paper
NM_004224.3
p.V248A
c.743T>C
1 paper
NM_004224.3
p.V248delFs
c.744delG
1 paper
NM_004224.3
p.A247E
c.740C>A
1 paper
NM_004224.3
p.A247V
c.740C>T
1 paper
NM_004224.3
p.V248V
c.744G>C
1 paper
NM_004224.3
p.C249S
c.745T>A
1 paper
NM_004224.3
p.C249Y
c.746G>A
1 paper
NM_004224.3
p.C249S
c.746G>C
1 paper
NM_004224.3
p.C249W
c.747C>G
1 paper
NM_004224.3
p.W250R
c.748T>A
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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."