Varaico: Literature-Extracted Genetic Variants

Gene:DRD2
Variant:p.Q304*

DRD2

996 papers

RefSeq Summary

This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutatio...

Pfam Domains

7tm_1aa 51–426UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

dopamine receptor D2

HGNC Alias Symbol

D2R

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000795.4
p.Q304*
c.910C>T
Surrounding Variants
1 paper
NM_000795.4
p.H303P
c.908A>C
1 paper
NM_000795.4
p.H302R
c.905A>G
1 paper
NM_000795.4
p.P300_S301insFs
c.900_901insC
32 papers
NM_000795.4
p.P310S
c.928C>T
3 papers
NM_000795.4
p.I298V
c.892A>G
2 papers
NM_000795.4
p.P297S
c.889C>T
1 paper
NM_000795.4
p.P297T
c.889C>A
218 papers
NM_000795.4
p.S311C
c.932C>G
1 paper
NM_000795.4
p.R294R
c.882G>A
10 papers
NM_000795.4
p.H313H
c.939T>C
1 paper
NM_000795.4
p.G314S
c.940G>A
2 papers
NM_000795.4
p.G314V
c.941G>T
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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."