Varaico: Literature-Extracted Genetic Variants

Gene:DRD2
Variant:p.V215A

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.V215A
c.644T>C
Surrounding Variants
1 paper
NM_000795.4
p.R217H
c.650G>A
8 papers
NM_000795.4
p.I212F
c.634A>T
2 papers
NM_000795.4
p.R219C
c.655C>T
1 paper
NM_000795.4
p.R219H
c.656G>A
1 paper
NM_000795.4
p.R220C
c.658C>T
1 paper
NM_000795.4
p.R220L
c.659G>T
1 paper
NM_000795.4
p.V223I
c.667G>A
4 papers
NM_000795.4
p.L206V
c.616C>G
1 paper
NM_000795.4
p.T225A
c.673A>G
1 paper
NM_000795.4
p.T225I
c.674C>T
1 paper
NM_000795.4
p.R227R
c.681C>G
3 papers
NM_000795.4
p.I203L
c.607A>C
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."