Varaico: Literature-Extracted Genetic Variants

Gene:DRD2
Variant:p.L162insFs

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.L162insFs
c.485_486insC
Surrounding Variants
1 paper
NM_000795.4
p.I166V
c.496A>G
1 paper
NM_000795.4
p.I166T
c.497T>C
1 paper
NM_000795.4
p.S167T
c.499T>A
1 paper
NM_000795.4
p.I156T
c.467T>C
1 paper
NM_000795.4
p.L170F
c.508C>T
1 paper
NM_000795.4
p.L170I
c.508C>A
19 papers
NM_000795.4
p.V154I
c.460G>A
1 paper
NM_000795.4
p.L171F
c.511C>T
1 paper
NM_000795.4
p.T153T
c.459C>T
1 paper
NM_000795.4
p.T153T
c.459C>A
1 paper
NM_000795.4
p.L171P
c.512T>C
1 paper
NM_000795.4
p.L171L
c.513C>T
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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."