Varaico: Literature-Extracted Genetic Variants

Gene:CACNA2D3
Variant:p.A773V
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CACNA2D3

NM_018398.3:p.A773V

Associated Papers

Autism-Linked Mutations in α2δ-1 and α2δ-3 Reduce Protein Membrane Expression but Affect Neither Calcium Channels nor Trans-Synaptic Signaling.

Haddad S et al.

Pharmaceuticals (basel, Switzerland), 2024

Pathophysiological Roles of Auxiliary Calcium Channel α2δ Subunits.

Hessenberger M et al.

Handbook of Experimental Pharmacology, 2023

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM6_ESM.xlsx › Supplementary_Data_4

Genetic heterogeneity and prognostic impact of recurrent ANK2 and TP53 mutations in mantle cell lymphoma: a multi-centre cohort study.

Jeong S et al.

Scientific Reports, 2020

32770099 (PubMed )
Supplement: 41598_2020_70310_MOESM1_ESM.pdf

Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.

Guo H et al.

Molecular Autism, 2018

30564305 (PubMed )
Supplement: 13229_2018_247_MOESM5_ESM.xlsx › MIS30_

De novo genic mutations among a Chinese autism spectrum disorder cohort.

Wang T et al.

Nature Communications, 2016

27824329 (PubMed )
Supplement: ncomms13316-s5.xlsx › Supplementary_Data_4
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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."