rs12363125
This is a downstream gene variant variant in the DRD2 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Association study of the serotoninergic system in migraine in the spanish populationFunctionalN=149Corominas R. et al.(2010)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Development and validation of a targeted NGS panel for diagnosing familial hemiplegic migraine (FHM), episodic ataxia type 2 (EA2), CADASIL, and migraine with aura. In 149 patients across 4 cohorts (55 FHM, 44 CADASIL, 31 EA2, 19 migraine families), the panel identified novel and known mutations in genes CACNA1A, ATP1A2, SCN1A, and NOTCH3, increasing mutation detection rate from 7.7% to 28.5%. Notably, ATP1A2 and NOTCH3 mutations were identified in typical migraine with aura families for the first time, demonstrating aetiological overlap with FHM.
About DRD2
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 mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. [provided by RefSeq, Jul 2008]
View all DRD2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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