Varaico: Literature-Extracted Genetic Variants

Gene:DRD2
Variant:p.D10A

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.D10A
c.29A>C
Surrounding Variants
1 paper
NM_000795.4
p.D10E
c.30T>G
1 paper
NM_000795.4
p.D10E
c.30T>A
1 paper
NM_000795.4
p.D11D
c.33T>C
2 papers
NM_000795.4
p.L13L
c.37C>T
1 paper
NM_000795.4
p.S7Y
c.20C>A
1 paper
NM_000795.4
p.L13L
c.39G>A
1 paper
NM_000795.4
p.E14Q
c.40G>C
1 paper
NM_000795.4
p.L6M
c.16C>A
1 paper
NM_000795.4
p.R15S
c.45G>C
2 papers
NM_000795.4
p.N5D
c.13A>G
2 papers
NM_000795.4
p.Q16Q
c.48G>A
1 paper
NM_000795.4
p.N17D
c.49A>G
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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."