Varaico: Literature-Extracted Genetic Variants

Gene:AICDA
Variant:p.R112H
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AICDA

NM_020661.4:p.R112H

Associated Papers

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

Koveshnikova EA et al.

International Journal of Molecular Sciences, 2025

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

Abolhassani H et al.

Clinical Genetics, 2020

The molecular landscape of ETMR at diagnosis and relapse.

Lambo S et al.

Nature, 2019

31802000 (PubMed )
Supplement: NIHMS1541318-supplement-Supplementary_Table_5.xlsx › Somatic_SNVs_indels_primary

A novel mouse model for the hyper-IgM syndrome: a spontaneous activation-induced cytidine deaminase mutation leading to complete loss of Ig class switching and reduced somatic hypermutation.

Dahlberg CI et al.

Journal of Immunology (baltimore, Md. : 1950), 2014

AID and Apobec3G haphazard deamination and mutational diversity.

Jaszczur M et al.

Cellular and Molecular Life Sciences : Cmls, 2013

A novel activation-induced cytidine deaminase (AID) mutation in Brazilian patients with hyper-IgM type 2 syndrome.

Caratão N et al.

Clinical Immunology (orlando, Fla.), 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

Inherited defects of immunoglobulin class switch recombination.

Kracker S et al.

Advances in Experimental Medicine and Biology, 2010

Hyper-IgM syndromes.

Durandy A et al.

Current Opinion in Rheumatology, 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

Identification of the activation-induced cytidine deaminase gene from zebrafish: an evolutionary analysis.

Zhao Y et al.

Developmental and Comparative Immunology, 2005

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

Ta VT et al.

Nature Immunology, 2003

Type two hyper-IgM syndrome caused by mutation in activation-induced cytidine deaminase.

Zhu Y et al.

Journal of Medical and Dental Sciences, 2003

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