KEGG   VARIANT: 3579v1
Entry
3579v1                      Variant                                
Name
CXCR2 mutation
Type
Loss of function
Gene
CXCR2  C-X-C motif chemokine receptor 2 [KO:K05050]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 146928
Network
nt06533  Chemokine signaling
Disease
H00097  WHIM syndrome
Reference
  Authors
Auer PL, Teumer A, Schick U, O'Shaughnessy A, Lo KS, Chami N, Carlson C, de Denus S, Dube MP, Haessler J, Jackson RD, Kooperberg C, Perreault LP, Nauck M, Peters U, Rioux JD, Schmidt F, Turcot V, Volker U, Volzke H, Greinacher A, Hsu L, Tardif JC, Diaz GA, Reiner AP, Lettre G
  Title
Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits.
  Journal
Nat Genet 46:629-34 (2014)
DOI:10.1038/ng.2962
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