Varaico: Literature-Extracted Genetic Variants

Gene:DRD2
Variant:p.I298V

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
3 papers
NM_000795.4
p.I298V
c.892A>G
Surrounding Variants
2 papers
NM_000795.4
p.P297S
c.889C>T
1 paper
NM_000795.4
p.P297T
c.889C>A
1 paper
NM_000795.4
p.P300_S301insFs
c.900_901insC
1 paper
NM_000795.4
p.R294R
c.882G>A
1 paper
NM_000795.4
p.H302R
c.905A>G
1 paper
NM_000795.4
p.R292R
c.876G>A
1 paper
NM_000795.4
p.H303P
c.908A>C
1 paper
NM_000795.4
p.Q304*
c.910C>T
2 papers
NM_000795.4
p.R292insFs
c.874_875insG
2 papers
NM_000795.4
p.P290P
c.870C>T
1 paper
NM_000795.4
p.S288S
c.864C>T
32 papers
NM_000795.4
p.P310S
c.928C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."