Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1A
Variant:p.E292E
Back to variants list

CACNA1A

NM_001127222.2:p.E292E

Associated Papers

An analysis of mutational signatures of synonymous mutations across 15 cancer types.

Bin Y et al.

Bmc Medical Genetics, 2019

31815613 (PubMed )
Supplement: 12881_2019_926_MOESM2_ESM.xlsx › Neutral_synonymous_mutations

CACNA1A variants may modify the epileptic phenotype of Dravet syndrome.

Ohmori I et al.

Neurobiology of Disease, 2013

Detection of a novel mutation in the CACNA1A gene.

Stuart S et al.

Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."