Varaico: Literature-Extracted Genetic Variants

Gene:AICDA
Variant:p.F151S
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AICDA

NM_020661.4:p.F151S

Associated Papers

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

Koveshnikova EA et al.

International Journal of Molecular Sciences, 2025

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

AID splice variants lack deaminase activity.

van Maldegem F et al.

Blood, 2009

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

Durandy A et al.

Human Mutation, 2006

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."