Varaico: Literature-Extracted Genetic Variants

Gene:DRD2

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
1–12 of 309 variants
322 papers
NM_000795.4
p.P319P
c.957C>T
218 papers
NM_000795.4
p.S311C
c.932C>G
32 papers
NM_000795.4
p.P310S
c.928C>T
23 papers
NM_000795.4
p.V96A
c.287T>C
19 papers
NM_000795.4
p.V154I
c.460G>A
17 papers
NM_000795.4
p.V47delFs
c.141delG
10 papers
NM_000795.4
p.H313H
c.939T>C
9 papers
NM_000795.4
p.K367K
c.1101G>A
8 papers
NM_000795.4
p.I212F
c.634A>T
7 papers
NM_000795.4
p.L141L
c.423G>A
6 papers
NM_000795.4
p.V270_E271Splc
c.811-83G>T
5 papers
NM_000795.4
p.V47_I48insFs
c.141_142insC
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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."