Varaico: Literature-Extracted Genetic Variants

Gene:DRD2
Variant:p.V47delFs

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
17 papers
NM_000795.4
p.V47delFs
c.141delG
Surrounding Variants
5 papers
NM_000795.4
p.V47_I48insFs
c.141_142insC
1 paper
NM_000795.4
p.I48T
c.143T>C
2 papers
NM_000795.4
p.V49I
c.145G>A
1 paper
NM_000795.4
p.V49V
c.147C>T
1 paper
NM_000795.4
p.A46T
c.136G>A
1 paper
NM_000795.4
p.I45I
c.135C>T
1 paper
NM_000795.4
p.G51S
c.151G>A
2 papers
NM_000795.4
p.L44L
c.132C>T
1 paper
NM_000795.4
p.G51G
c.153C>A
1 paper
NM_000795.4
p.L44V
c.130C>G
1 paper
NM_000795.4
p.L44I
c.130C>A
1 paper
NM_000795.4
p.T42T
c.126C>G
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