Varaico: Literature-Extracted Genetic Variants

Gene:AICDA
Variant:p.R174S
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AICDA

NM_020661.4:p.R174S

Associated Papers

Insights on SNPs of Human Activation-Induced Cytidine Deaminase AID.

Koveshnikova EA et al.

International Journal of Molecular Sciences, 2025

A single-center study points to diverse features and outcome in patients with Hyperimmunoglobulin M Syndrome and Class- Switch Recombination defects.

Akarsu A et al.

Scandinavian Journal of Immunology, 2022

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

Abolhassani H et al.

Clinical Genetics, 2020

Activation-induced cytidine deaminase targets SUV4-20-mediated histone H4K20 trimethylation to class-switch recombination sites.

Rodríguez-Cortez VC et al.

Scientific Reports, 2017

AID Recognizes Structured DNA for Class Switch Recombination.

Qiao Q et al.

Molecular Cell, 2017

AID and Apobec3G haphazard deamination and mutational diversity.

Jaszczur M et al.

Cellular and Molecular Life Sciences : Cmls, 2013

Potential roles of activation-induced cytidine deaminase in promotion or prevention of autoimmunity in humans.

Durandy A et al.

Autoimmunity, 2013

A structural basis for the biochemical behavior of activation-induced deoxycytidine deaminase class-switch recombination-defective hyper-IgM-2 mutants.

Mu Y et al.

The Journal of Biological Chemistry, 2012

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 splice variants are defective because of the lack of structural support for the catalytic site.

van Maldegem F et al.

Journal of Immunology (baltimore, Md. : 1950), 2010

Inherited defects of immunoglobulin class switch recombination.

Kracker S et al.

Advances in Experimental Medicine and Biology, 2010

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

Durandy A et al.

Human Mutation, 2006

Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2.

Imai K et al.

Clinical Immunology (orlando, Fla.), 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."