Varaico: Literature-Extracted Genetic Variants

Gene:ANK2
Variant:p.P1844S
Back to variants list

ANK2

NM_001148.6:p.P1844S

Associated Papers

Identification of Neurotransmission and Synaptic Biological Processes Disrupted in Autism Spectrum Disorder Using Interaction Networks and Community Detection Analysis.

Vilela J et al.

Biomedicines, 2023

38001974 (PubMed )
Supplement: biomedicines-11-02971-s001.zip › Supplementary_Table_S5.xlsx › S5

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

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

31285321 (PubMed )
Supplement: pnas.1904348116.sd01.xlsx › Sheet1

De novo genic mutations among a Chinese autism spectrum disorder cohort.

Wang T et al.

Nature Communications, 2016

27824329 (PubMed )
Supplement: ncomms13316-s7.xlsx › Supplementary_Data_6
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."