Varaico: Literature-Extracted Genetic Variants

Gene:AICDA
Variant:p.M139T
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AICDA

NM_020661.4:p.M139T

Associated Papers

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

Koveshnikova EA et al.

International Journal of Molecular Sciences, 2025

The Finnish genetic heritage in 2022 - from diagnosis to translational research.

Uusimaa J et al.

Disease Models & Mechanisms, 2022

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Stranneheim H et al.

Genome Medicine, 2021

33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants

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

Abolhassani H et al.

Clinical Genetics, 2020

Unexpectedly High Prevalence of Common Variable Immunodeficiency in Finland.

Selenius JS et al.

Frontiers in Immunology, 2017

Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland.

Trotta L et al.

European Journal of Human Genetics : Ejhg, 2016

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

Durandy A et al.

Autoimmunity, 2013

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

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

Durandy A et al.

Human Mutation, 2006

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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."