Varaico: Literature-Extracted Genetic Variants

Gene:CACNA2D3
Variant:p.I340V
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CACNA2D3

NM_018398.3:p.I340V

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

Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility.

Viggiano M et al.

Frontiers in Psychiatry, 2022

35350424 (PubMed )
Supplement: Data-Sheet_1.pdf

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › TSG
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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."