Varaico: Literature-Extracted Genetic Variants

Gene:DRD2
Variant:p.A64V

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.A64V
c.191C>T
Surrounding Variants
1 paper
NM_000795.4
p.L65P
c.194T>C
1 paper
NM_000795.4
p.E62K
c.184G>A
1 paper
NM_000795.4
p.T67P
c.199A>C
1 paper
NM_000795.4
p.S60Y
c.179C>A
1 paper
NM_000795.4
p.S60P
c.178T>C
1 paper
NM_000795.4
p.T69P
c.205A>C
1 paper
NM_000795.4
p.M57L
c.169A>C
1 paper
NM_000795.4
p.L72Q
c.215T>A
2 papers
NM_000795.4
p.I73V
c.217A>G
1 paper
NM_000795.4
p.V55A
c.164T>C
1 paper
NM_000795.4
p.V74F
c.220G>T
1 paper
NM_000795.4
p.V74D
c.221T>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."