Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1H
Variant:p.A1874V
Back to variants list

CACNA1H

NM_021098.3:p.A1874V

Associated Papers

Genetic T-type calcium channelopathies.

Weiss N et al.

Journal of Medical Genetics, 2020

Increased Ca2+ signaling in NRXN1α+/- neurons derived from ASD induced pluripotent stem cells.

Avazzadeh S et al.

Molecular Autism, 2019

Autism throughout genetics: Perusal of the implication of ion channels.

Daghsni M et al.

Brain and Behavior, 2018

CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism.

Daniil G et al.

Ebiomedicine, 2016

The I-II loop controls plasma membrane expression and gating of Ca(v)3.2 T-type Ca2+ channels: a paradigm for childhood absence epilepsy mutations.

Vitko I et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2007

Calcium channelopathies: voltage-gated calcium channels.

Adams PJ et al.

Sub-cellular Biochemistry, 2007

CACNA1H mutations in autism spectrum disorders.

Splawski I et al.

The Journal of Biological Chemistry, 2006

Characterization of the gating brake in the I-II loop of CaV3 T-type calcium channels.

Perez-Reyes E

Channels (austin, Tex.), 0

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."