Varaico: Literature-Extracted Genetic Variants

Gene:ADARB1
Variant:p.K127E
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ADARB1

NM_001112.4:p.K127E

Associated Papers

Novel ADAR2 variants in children with seizures, intellectual disability, and motor delay have reduced RNA editing.

Du Q et al.

Rna (new York, N.y.), 2025

Core-binding factor fusion downregulation of ADAR2 RNA editing contributes to AML leukemogenesis.

Guo M et al.

Blood, 2023

36796022 (PubMed )
Supplement: blood_bld-2022-015830-mmc4.pdf

Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy.

Maroofian R et al.

Journal of Medical Genetics, 2021

RNA binding-independent dimerization of adenosine deaminases acting on RNA and dominant negative effects of nonfunctional subunits on dimer functions.

Valente L et al.

The Journal of Biological Chemistry, 2007

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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."