KEGG   VARIANT: 1524v1
Entry
1524v1                      Variant                                
Name
CX3CR1 mutation
Type
Loss of function
Gene
CX3CR1  C-X3-C motif chemokine receptor 1 [KO:K04192]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601470
Network
nt06535  Efferocytosis
Disease
H00821  Age-related macular degeneration
H01742  Coronary artery disease
Reference
PMID:12697743
  Authors
McDermott DH, Fong AM, Yang Q, Sechler JM, Cupples LA, Merrell MN, Wilson PW, D'Agostino RB, O'Donnell CJ, Patel DD, Murphy PM
  Title
Chemokine receptor mutant CX3CR1-M280 has impaired adhesive function and correlates with protection from cardiovascular disease in humans.
  Journal
J Clin Invest 111:1241-50 (2003)
DOI:10.1172/JCI16790
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