Varaico: Literature-Extracted Genetic Variants

Gene:AICDA
Variant:p.C147*
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AICDA

NM_020661.4:p.C147*

Associated Papers

A Novel Heterozygous Variant in AICDA Impairs Ig Class Switching and Somatic Hypermutation in Human B Cells and is Associated with Autosomal Dominant HIGM2 Syndrome.

Della Mina E et al.

Journal of Clinical Immunology, 2024

Clinical implications of experimental analyses of AID function on predictive computational tools: Challenge of missense variants.

Abolhassani H et al.

Clinical Genetics, 2020

Novel mutation of the activation-induced cytidine deaminase gene in a Tajik family: special review on hyper-immunoglobulin M syndrome.

Mahdaviani SA et al.

Expert Review of Clinical Immunology, 2012

Activation-induced cytidine deaminase: structure-function relationship as based on the study of mutants.

Durandy A et al.

Human Mutation, 2006

AID mutant analyses indicate requirement for class-switch-specific cofactors.

Ta VT et al.

Nature Immunology, 2003

Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2).

Revy P et al.

Cell, 2000

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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."