RAG2, recombination activating 2, 5897

N. diseases: 207; N. variants: 44
Disease: Combined Cellular And Humoral Immune Defects With Granulomas ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs748727021
rs748727021
Entrez Id: 5897;119710
Gene Symbol: RAG2;IFTAP
RAG2;IFTAP
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		A 0.700 CausalMutation CLINVAR Disruption of the RAG2 zinc finger motif impairs protein stability and causes immunodeficiency. 26692406 2016
dbSNP: rs748727021
rs748727021
Entrez Id: 5897;119710
Gene Symbol: RAG2;IFTAP
RAG2;IFTAP
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		A 0.700 CausalMutation CLINVAR Crystal structure of the V(D)J recombinase RAG1-RAG2. 25707801 2015
dbSNP: rs748727021
rs748727021
Entrez Id: 5897;119710
Gene Symbol: RAG2;IFTAP
RAG2;IFTAP
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		A 0.700 CausalMutation CLINVAR RAG2 PHD finger couples histone H3 lysine 4 trimethylation with V(D)J recombination. 18033247 2007
dbSNP: rs748727021
rs748727021
Entrez Id: 5897;119710
Gene Symbol: RAG2;IFTAP
RAG2;IFTAP
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		A 0.700 CausalMutation CLINVAR RAG-dependent primary immunodeficiencies. 16960852 2006
dbSNP: rs748727021
rs748727021
Entrez Id: 5897;119710
Gene Symbol: RAG2;IFTAP
RAG2;IFTAP
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		A 0.700 CausalMutation CLINVAR A direct interaction between the RAG2 C terminus and the core histones is required for efficient V(D)J recombination. 16111638 2005
dbSNP: rs748727021
rs748727021
Entrez Id: 5897;119710
Gene Symbol: RAG2;IFTAP
RAG2;IFTAP
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		A 0.700 CausalMutation CLINVAR V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. 11133745 2001