Varaico: Literature-Extracted Genetic Variants

Gene:GABRA3
Variant:p.T336M
Back to variants list

GABRA3

NM_000808.4:p.T336M

Associated Papers

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive.

Johannesen KM et al.

The Journal of Clinical Investigation, 2026

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl12.xlsx › Blad1

Effects of GABAA Receptor α3 Subunit Epilepsy Mutations on Inhibitory Synaptic Signaling.

Syed P et al.

Frontiers in Molecular Neuroscience, 2020

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.

May P et al.

The Lancet. Neurology, 2018

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."