Varaico: Literature-Extracted Genetic Variants

Gene:ANK2
Variant:p.E3429V
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ANK2

NM_001148.6:p.E3429V

Associated Papers

Roles of ANK2/ankyrin-B in neurodevelopmental disorders: Isoform functions and implications for autism spectrum disorder and epilepsy.

Yoon S et al.

Current Opinion in Neurobiology, 2025

Discovering the ANK2-related autism phenotype.

Guissart C et al.

Clinical Genetics, 2023

ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.

Teunissen MWA et al.

Human Molecular Genetics, 2023

37195288 (PubMed )
Supplement: supplementary_figures_tables_ddad081.pdf

Protein interaction studies in human induced neurons indicate convergent biology underlying autism spectrum disorders.

Pintacuda G et al.

Cell Genomics, 2023

Mechanisms underlying the role of ankyrin-B in cardiac and neurological health and disease.

York NS et al.

Frontiers in Cardiovascular Medicine, 2022

Giant ankyrin-B mediates transduction of axon guidance and collateral branch pruning factor sema 3A.

Creighton BA et al.

Elife, 2021

ANK2 autism mutation targeting giant ankyrin-B promotes axon branching and ectopic connectivity.

Yang R et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Whole-genome sequencing of quartet families with autism spectrum disorder.

Yuen RK et al.

Nature Medicine, 2015

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