Variant: rs748727021 

    present in Gene: RAG2;IFTAP
    present in Chromosome: 11
    Position on Chromosome: 36593574
    Alleles of this Variant: C/A

rs748727021 in RAG2;IFTAP gene and Combined Cellular And Humoral Immune Defects With Granulomas PMID 26692406 2016 Disruption of the RAG2 zinc finger motif impairs protein stability and causes immunodeficiency.

PMID 16111638 2005 A direct interaction between the RAG2 C terminus and the core histones is required for efficient V(D)J recombination.

PMID 11133745 2001 V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

PMID 25707801 2015 Crystal structure of the V(D)J recombinase RAG1-RAG2.

PMID 18033247 2007 RAG2 PHD finger couples histone H3 lysine 4 trimethylation with V(D)J recombination.

PMID 16960852 2006 RAG-dependent primary immunodeficiencies.

rs748727021 in RAG2;IFTAP gene and Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive PMID 25707801 2015 Crystal structure of the V(D)J recombinase RAG1-RAG2.

PMID 11133745 2001 V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

PMID 16960852 2006 RAG-dependent primary immunodeficiencies.

PMID 16111638 2005 A direct interaction between the RAG2 C terminus and the core histones is required for efficient V(D)J recombination.

PMID 18033247 2007 RAG2 PHD finger couples histone H3 lysine 4 trimethylation with V(D)J recombination.

PMID 26692406 2016 Disruption of the RAG2 zinc finger motif impairs protein stability and causes immunodeficiency.