Varaico: Literature-Extracted Genetic Variants

Gene:DRD2
Variant:p.D114E

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
2 papers
NM_000795.4
p.D114E
c.342C>G
Surrounding Variants
2 papers
NM_000795.4
p.D114E
c.342C>A
1 paper
NM_000795.4
p.M116L
c.346A>T
1 paper
NM_000795.4
p.M116L
c.346A>C
3 papers
NM_000795.4
p.C118S
c.352T>A
3 papers
NM_000795.4
p.C118S
c.353G>C
1 paper
NM_000795.4
p.V111I
c.331G>A
1 paper
NM_000795.4
p.F110C
c.329T>G
2 papers
NM_000795.4
p.T119M
c.356C>T
1 paper
NM_000795.4
p.S121C
c.361A>T
1 paper
NM_000795.4
p.D108V
c.323A>T
1 paper
NM_000795.4
p.H106H
c.318C>T
1 paper
NM_000795.4
p.I122M
c.366C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."