Varaico: Literature-Extracted Genetic Variants

Gene:DRD2
Variant:p.S147G

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.S147G
c.439A>G
Surrounding Variants
1 paper
NM_000795.4
p.S148A
c.442T>G
1 paper
NM_000795.4
p.R145P
c.434G>C
1 paper
NM_000795.4
p.R145H
c.434G>A
2 papers
NM_000795.4
p.R145C
c.433C>T
1 paper
NM_000795.4
p.R150C
c.448C>T
1 paper
NM_000795.4
p.R150H
c.449G>A
1 paper
NM_000795.4
p.R151Q
c.452G>A
1 paper
NM_000795.4
p.Y142Y
c.426C>T
7 papers
NM_000795.4
p.L141L
c.423G>A
1 paper
NM_000795.4
p.L141M
c.421C>A
1 paper
NM_000795.4
p.T153T
c.459C>T
1 paper
NM_000795.4
p.T153T
c.459C>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."