Varaico: Literature-Extracted Genetic Variants

Gene:AICDA
Variant:p.R24W
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AICDA

NM_020661.4:p.R24W

Associated Papers

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

Koveshnikova EA et al.

International Journal of Molecular Sciences, 2025

A holistic approach to maximise diagnostic output in trio exome sequencing.

von Hardenberg S et al.

Frontiers in Pediatrics, 2023

37274821 (PubMed )
Supplement: Datasheet1.xlsx › Table_1_pV_lpV_variants

Lysine acetylation regulates the interaction between proteins and membranes.

Okada AK et al.

Nature Communications, 2021

34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1

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

Abolhassani H et al.

Clinical Genetics, 2020

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM8_ESM.xlsx › S6B

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

Rodríguez-Cortez VC et al.

Scientific Reports, 2017

Autosomal recessive hyper IgM syndrome associated with activation-induced cytidine deaminase gene in three Turkish siblings presented with tuberculosis lymphadenitis - Case report.

Patiroglu T et al.

Acta Microbiologica Et Immunologica Hungarica, 2015

Proteome-wide analysis of human disease mutations in short linear motifs: neglected players in cancer?

Uyar B et al.

Molecular Biosystems, 2014

25057855 (PubMed )
Supplement: MB-010-C4mb00290c-s003.zip › Supplementary_file_22.xlsx › OMIM

AID and Apobec3G haphazard deamination and mutational diversity.

Jaszczur M et al.

Cellular and Molecular Life Sciences : Cmls, 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

CTNNBL1 is a novel nuclear localization sequence-binding protein that recognizes RNA-splicing factors CDC5L and Prp31.

Ganesh K et al.

The Journal of Biological Chemistry, 2011

Inherited defects of immunoglobulin class switch recombination.

Kracker S et al.

Advances in Experimental Medicine and Biology, 2010

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-

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

Durandy A et al.

Human Mutation, 2006

Hyper-IgM syndromes.

Durandy A et al.

Current Opinion in Rheumatology, 2006

Reward versus risk: DNA cytidine deaminases triggering immunity and disease.

Pham P et al.

Biochemistry, 2005

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."