Varaico: Literature-Extracted Genetic Variants

Gene:DRD2
Variant:p.R233S

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.R233S
c.699G>T
Surrounding Variants
1 paper
NM_000795.4
p.R233S
c.699G>C
1 paper
NM_000795.4
p.H235H
c.705C>T
2 papers
NM_000795.4
p.R230Q
c.689G>A
1 paper
NM_000795.4
p.R230*
c.688C>T
1 paper
NM_000795.4
p.S229G
c.685A>G
2 papers
NM_000795.4
p.P239S
c.715C>T
1 paper
NM_000795.4
p.A238_P239insFs
c.714_715insT
1 paper
NM_000795.4
p.S228G
c.682A>G
1 paper
NM_000795.4
p.R227R
c.681C>G
1 paper
NM_000795.4
p.K241*
c.721A>T
1 paper
NM_000795.4
p.K241E
c.721A>G
1 paper
NM_000795.4
p.T225I
c.674C>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."