Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.A350T
Back to variants list

IQSEC2

NM_001111125.3:p.A350T

Associated Papers

Molecular Insights into IQSEC2 Disease.

Levy NS et al.

International Journal of Molecular Sciences, 2023

Daily Brief Heat Therapy Reduces Seizures in A350V IQSEC2 Mice and Is Associated with Correction of AMPA Receptor-Mediated Synaptic Dysfunction.

Jada R et al.

International Journal of Molecular Sciences, 2023

A Novel X-Linked Variant of IQSEC2 is Associated with Lennox-Gastaut Syndrome and Mild Intellectual Disability in Three Generations of a Korean Family.

Choi MH et al.

Genetic Testing and Molecular Biomarkers, 2020

Characteristics of Genetic Variations Associated With Lennox-Gastaut Syndrome in Korean Families.

Yang JO et al.

Frontiers in Genetics, 2020

Molecular modeling of ARF6 dysregulation caused by mutations in IQSEC2.

Shokhen M et al.

Journal of Biomolecular Structure & Dynamics, 0

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."