Varaico: Literature-Extracted Genetic Variants

Gene:CACNA2D1
Variant:p.R351T
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CACNA2D1

NM_000722.4:p.R351T

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

Reference-informed prediction of alternative splicing and splicing-altering mutations from sequences.

Xu C et al.

Genome Research, 2024

39060028 (PubMed )
Supplement: Supplemental_Table_S8.xlsx › Table_S8

Increased NMDARs in neurons and glutamine synthetase in astrocytes underlying autistic-like behaviors of Gabrb1-/- mice.

Wang J et al.

Iscience, 2023

37599823 (PubMed )
Supplement: mmc2.zip › Supplemental_tables › Supplemental_table_3.xlsx › Table_S3

Pathophysiological Roles of Auxiliary Calcium Channel α2δ Subunits.

Hessenberger M et al.

Handbook of Experimental Pharmacology, 2023

Cerebellum and neurodevelopmental disorders: RORα is a unifying force.

Ribeiro S et al.

Frontiers in Cellular Neuroscience, 2023

37066074 (PubMed )
Supplement: Table_1.XLSX › SFARI_AutDB__2023

Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Wang T et al.

Ebiomedicine, 2022

35665681 (PubMed )
Supplement: mmc24.xlsx › Sheet1

Systematic reconstruction of autism biology from massive genetic mutation profiles.

Luo W et al.

Science Advances, 2018

29651456 (PubMed )
Supplement: 1701799_TableS5.xlsx › missense
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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."