Varaico: Literature-Extracted Genetic Variants

Gene:KCNN2
Variant:p.S288delins
Back to variants list

KCNN2

NM_021614.4:p.S288delins

Associated Papers

Insufficient effect of deep brain stimulation in a patient with KCNN2-associated myoclonus-dystonia.

Pauly MG et al.

Parkinsonism & Related Disorders, 2025

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Schmidt A et al.

Nature Genetics, 2024

39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S3

Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.

Mochel F et al.

Brain : a Journal of Neurology, 2020

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."