KEGG   VARIANT: 3763v1
Entry
3763v1                      Variant                                
Name
KCNJ6 mutation
Type
Loss of function
Gene
KCNJ6  potassium inwardly rectifying channel subfamily J member 6 [KO:K05000]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600877
Network
nt06544  Neuroactive ligand signaling
Disease
H02236  Keppen-Lubinsky syndrome
Reference
PMID:25620207
  Authors
Masotti A, Uva P, Davis-Keppen L, Basel-Vanagaite L, Cohen L, Pisaneschi E, Celluzzi A, Bencivenga P, Fang M, Tian M, Xu X, Cappa M, Dallapiccola B
  Title
Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.
  Journal
Am J Hum Genet 96:295-300 (2015)
DOI:10.1016/j.ajhg.2014.12.011
LinkDB

DBGET integrated database retrieval system