KEGG   VARIANT: 5896v1
Entry
5896v1                      Variant                                
Name
RAG1 mutation
Type
Loss of function
Gene
RAG1  recombination activating 1 [KO:K10628]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 179615
Network
nt06506  Double-strand break repair
Disease
H00092  T-B-Severe combined immunodeficiency
H01244  T+B+Severe combined immunodeficiencies (SCIDs)
H02554  Omenn syndrome
Reference
PMID:8810255
  Authors
Schwarz K, Gauss GH, Ludwig L, Pannicke U, Li Z, Lindner D, Friedrich W, Seger RA, Hansen-Hagge TE, Desiderio S, Lieber MR, Bartram CR
  Title
RAG mutations in human B cell-negative SCID.
  Journal
Science 274:97-9 (1996)
DOI:10.1126/science.274.5284.97
Reference
PMID:9630231
  Authors
Villa A, Santagata S, Bozzi F, Giliani S, Frattini A, Imberti L, Gatta LB, Ochs HD, Schwarz K, Notarangelo LD, Vezzoni P, Spanopoulou E
  Title
Partial V(D)J recombination activity leads to Omenn syndrome.
  Journal
Cell 93:885-96 (1998)
DOI:10.1016/s0092-8674(00)81448-8
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