Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.P786L
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ATP1A2

NM_000702.4:p.P786L

Associated Papers

Tumor genetic heterogeneity analysis of chronic sun-damaged melanoma.

Sanna A et al.

Pigment Cell & Melanoma Research, 2020

31811783 (PubMed )
Supplement: PCMR-33-480-s003.xls › Supplementary_Table_3

Recurrent coma and fever in familial hemiplegic migraine type 2. A prospective 15-year follow-up of a large family with a novel ATP1A2 mutation.

Pelzer N et al.

Cephalalgia : an International Journal of Headache, 2017

ATP1A2 Mutations in Migraine: Seeing through the Facets of an Ion Pump onto the Neurobiology of Disease.

Friedrich T et al.

Frontiers in Physiology, 2016

Familial hemiplegic migraine mutations affect Na,K-ATPase domain interactions.

Swarts HG et al.

Biochimica Et Biophysica Acta, 2013

Neurovascular changes in prolonged migraine aura in FHM with a novel ATP1A2 gene mutation.

Iizuka T et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2012

Migraine- and dystonia-related disease-mutations of Na+/K+-ATPases: relevance of behavioral studies in mice to disease symptoms and neurological manifestations in humans.

Bøttger P et al.

Neuroscience and Biobehavioral Reviews, 2012

A long-term follow-up study of 18 patients with sporadic hemiplegic migraine.

Stam AH et al.

Cephalalgia : an International Journal of Headache, 2011

Molecular genetics of migraine.

de Vries B et al.

Human Genetics, 2009

Genetics of migraine: an update with special attention to genetic comorbidity.

Stam AH et al.

Current Opinion in Neurology, 2008

Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine.

de Vries B et al.

Neurology, 2007

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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."