Varaico: Literature-Extracted Genetic Variants

Gene:DRD2
Variant:p.S311C

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
218 papers
NM_000795.4
p.S311C
c.932C>G
Surrounding Variants
32 papers
NM_000795.4
p.P310S
c.928C>T
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
1 paper
NM_000795.4
p.H316Y
c.946C>T
1 paper
NM_000795.4
p.H316H
c.948C>T
1 paper
NM_000795.4
p.Q304*
c.910C>T
1 paper
NM_000795.4
p.H303P
c.908A>C
322 papers
NM_000795.4
p.P319P
c.957C>T
1 paper
NM_000795.4
p.H302R
c.905A>G
4 papers
NM_000795.4
p.D320E
c.960C>G
1 paper
NM_000795.4
p.D320fs
c.958_959fs
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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."