RAG2, recombination activating 2, 5897
N. diseases: 207; N. variants: 44
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.700 | GeneticVariation | UNIPROT | Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia. | 19912631 | 2009 | |||||||
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T | 0.700 | GeneticVariation | CLINVAR | Omenn syndrome due to mutation of the RAG2 gene. | 19470080 | 2009 | ||||||
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0.700 | GeneticVariation | UNIPROT | Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia. | 19912631 | 2009 | |||||||
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A | 0.700 | GeneticVariation | CLINVAR | RAG-dependent primary immunodeficiencies. | 16960852 | 2006 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | RAG-dependent primary immunodeficiencies. | 16960852 | 2006 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome. | 15025726 | 2004 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome. | 15025726 | 2004 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins. | 12200379 | 2002 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome. | 11313270 | 2001 | ||||||
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0.700 | GeneticVariation | UNIPROT | V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. | 11133745 | 2001 | |||||||
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0.700 | GeneticVariation | UNIPROT | V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. | 11133745 | 2001 | |||||||
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0.700 | GeneticVariation | UNIPROT | Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders. | 10606976 | 2000 | |||||||
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T | 0.700 | GeneticVariation | CLINVAR | Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies. | 10891502 | 2000 | ||||||
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0.700 | GeneticVariation | UNIPROT | Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders. | 10606976 | 2000 | |||||||
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T | 0.700 | GeneticVariation | CLINVAR | Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies. | 10891502 | 2000 | ||||||
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0.700 | GeneticVariation | UNIPROT | Partial V(D)J recombination activity leads to Omenn syndrome. | 9630231 | 1998 | |||||||
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0.700 | GeneticVariation | UNIPROT | Partial V(D)J recombination activity leads to Omenn syndrome. | 9630231 | 1998 | |||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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0.040 | GeneticVariation | BEFREE | While Rag2-R229Q mutation under some conditions may cause severe immunological and clinical phenotypes similar to human SCID or OS, R229Q mutation per se did not cause severe immunodeficiency in mice, suggesting that additional factors other than R229Q mutation are required to induce severe immunodeficiency. | 30872621 | 2019 | |||||||
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0.040 | GeneticVariation | BEFREE | Here we show the effect of anti-CD3ε mAb administration in the RAG2(R229Q) mouse model, which closely recapitulates human OS. | 22723555 | 2012 | |||||||
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0.040 | GeneticVariation | BEFREE | Hypomorphic Rag2(R229Q) knock-in mice, which recapitulate OS, revealed, beyond severe B cell developmental arrest, a normal or even enlarged compartment of immunoglobulin-secreting cells (ISC). | 20547828 | 2010 |