Varaico: Literature-Extracted Genetic Variants

Gene:AICDA
Variant:p.C87R
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AICDA

NM_020661.4:p.C87R

Associated Papers

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 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

Molecular genetic analysis of Hungarian patients with the hyper-immunoglobulin M syndrome.

Erdos M et al.

Molecular Immunology, 2008

Hyper-IgM syndromes.

Durandy A et al.

Current Opinion in Rheumatology, 2006

Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome.

Lee WI et al.

Blood, 2005

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

Ta VT et al.

Nature Immunology, 2003

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