Varaico: Literature-Extracted Genetic Variants

Gene:ANK2
Variant:p.D2610delFs
Back to variants list

ANK2

NM_001148.6:p.D2610delFs

Associated Papers

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

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_MOESM14_ESM.xlsx › NDD_probands__public_

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Husson T et al.

Translational Psychiatry, 2020

32094338 (PubMed )
Supplement: 41398_2020_760_MOESM2_ESM.xlsx › De_novo

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
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."