Varaico: Literature-Extracted Genetic Variants

Gene:GABRR2
Variant:p.V321I
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GABRR2

NM_002043.5:p.V321I

Associated Papers

Stimulating T cell responses against patient-derived breast cancer cells with neoantigen peptide-loaded peripheral blood mononuclear cells.

Sueangoen N et al.

Cancer Immunology, Immunotherapy : Cii, 2024

38349410 (PubMed )
Supplement: 262_2024_3627_MOESM5_ESM.pdf

De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.

Butler KM et al.

Brain : a Journal of Neurology, 2018

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.

Pagnamenta AT et al.

Human Molecular Genetics, 2015

25855803 (PubMed )
Supplement: supp_ddv117_ddv117supp_table2.xls › Table_S2

The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.

Ferraro TN et al.

Epilepsy & Behavior : E&b, 2005

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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."