Varaico: Literature-Extracted Genetic Variants

Gene:DRD2
Variant:p.A29P

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.A29P
c.85G>C
Surrounding Variants
1 paper
NM_000795.4
p.K28K
c.84G>A
1 paper
NM_000795.4
p.D30A
c.89A>C
1 paper
NM_000795.4
p.G27insFs
c.79_80insA
1 paper
NM_000795.4
p.D26E
c.78C>G
1 paper
NM_000795.4
p.D26E
c.78C>A
1 paper
NM_000795.4
p.D26V
c.77A>T
1 paper
NM_000795.4
p.P32L
c.95C>T
1 paper
NM_000795.4
p.S25L
c.74C>T
1 paper
NM_000795.4
p.S25insFs
c.74_75insG
1 paper
NM_000795.4
p.S25*
c.74C>A
3 papers
NM_000795.4
p.Y34Y
c.102C>T
1 paper
NM_000795.4
p.F22F
c.66C>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."