Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1H
Variant:p.R212C
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CACNA1H

NM_021098.3:p.R212C

Associated Papers

Genomic landscape of hormone therapy-resistant HR-positive, HER2-negative breast cancer.

Chaubal R et al.

Breast Cancer Research and Treatment, 2025

40652157 (PubMed )
Supplement: 10549_2025_7759_MOESM1_ESM.xlsx › stable6

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM8_ESM.xlsx › Validated_mutations

Genetic T-type calcium channelopathies.

Weiss N et al.

Journal of Medical Genetics, 2020

Genome-wide association study and identification of chromosomal enhancer maps in multiple brain regions related to autism spectrum disorder.

Zhang L et al.

Autism Research : Official Journal of the International Society for Autism Research, 2019

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

Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders.

Heyes S et al.

Progress in Neurobiology, 2015

Genomic differences between pure ductal carcinoma in situ and synchronous ductal carcinoma in situ with invasive breast cancer.

Kim SY et al.

Oncotarget, 2015

25831047 (PubMed )
Supplement: oncotarget-06-7597-s002.xlsx › Table_S1

Autism genetics.

Persico AM et al.

Behavioural Brain Research, 2013

Mitochondrial and ion channel gene alterations in autism.

Smith M et al.

Biochimica Et Biophysica Acta, 2012

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

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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."