KEGG   VARIANT: 150v1
Entry
150v1                      Variant                                 
Name
ADRA2A mutation
Type
Loss of function
Gene
ADRA2A  adrenoceptor alpha 2A [KO:K04138]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 104210
Network
nt06544  Neuroactive ligand signaling
Disease
H00420  Familial partial lipodystrophy
Reference
PMID:27376152
  Authors
Garg A, Sankella S, Xing C, Agarwal AK
  Title
Whole-exome sequencing identifies ADRA2A mutation in atypical familial partial lipodystrophy.
  Journal
JCI Insight 1:e86870 (2016)
DOI:10.1172/jci.insight.86870
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