Varaico: Literature-Extracted Genetic Variants

Gene:DRD2
Variant:p.L171F

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.L171F
c.511C>T
Surrounding Variants
1 paper
NM_000795.4
p.L171P
c.512T>C
1 paper
NM_000795.4
p.L171L
c.513C>T
1 paper
NM_000795.4
p.L170F
c.508C>T
1 paper
NM_000795.4
p.L170I
c.508C>A
2 papers
NM_000795.4
p.F172F
c.516C>T
1 paper
NM_000795.4
p.G173R
c.517G>C
1 paper
NM_000795.4
p.G173R
c.517G>A
1 paper
NM_000795.4
p.S167T
c.499T>A
1 paper
NM_000795.4
p.I166T
c.497T>C
1 paper
NM_000795.4
p.N176D
c.526A>G
1 paper
NM_000795.4
p.I166V
c.496A>G
1 paper
NM_000795.4
p.N176H
c.526A>C
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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."