Varaico: Literature-Extracted Genetic Variants

Gene:DRD2
Variant:p.M374L

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.M374L
c.1120A>C
Surrounding Variants
1 paper
NM_000795.4
p.M374L
c.1120A>T
4 papers
NM_000795.4
p.M374R
c.1121T>G
2 papers
NM_000795.4
p.L375F
c.1123C>T
1 paper
NM_000795.4
p.L375R
c.1124T>G
1 paper
NM_000795.4
p.T372I
c.1115C>T
1 paper
NM_000795.4
p.I377I
c.1131T>C
1 paper
NM_000795.4
p.L379F
c.1135C>T
1 paper
NM_000795.4
p.E368D
c.1104G>T
1 paper
NM_000795.4
p.E368D
c.1104G>C
1 paper
NM_000795.4
p.G380S
c.1138G>A
9 papers
NM_000795.4
p.K367K
c.1101G>A
1 paper
NM_000795.4
p.K367E
c.1099A>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."