Varaico: Literature-Extracted Genetic Variants

Gene:DRD2
Variant:p.S197A

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.S197A
c.589T>G
Surrounding Variants
1 paper
NM_000795.4
p.S197Y
c.590C>A
1 paper
NM_000795.4
p.V196A
c.587T>C
1 paper
NM_000795.4
p.V196L
c.586G>C
1 paper
NM_000795.4
p.F198S
c.593T>C
4 papers
NM_000795.4
p.I195I
c.585C>T
1 paper
NM_000795.4
p.F198F
c.594C>T
1 paper
NM_000795.4
p.I195F
c.583A>T
1 paper
NM_000795.4
p.Y199F
c.596A>T
2 papers
NM_000795.4
p.Y199Y
c.597C>T
1 paper
NM_000795.4
p.S194F
c.581C>T
1 paper
NM_000795.4
p.S194A
c.580T>G
2 papers
NM_000795.4
p.S193A
c.577T>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."