Gene: KCNN2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554086554
rs1554086554
KCNN2
C 0.700 GeneticVariation CLINVAR De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. 27048600

2016
dbSNP: rs1554086554
rs1554086554
KCNN2
C 0.700 GeneticVariation CLINVAR Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. 25917818

2015
dbSNP: rs1554086554
rs1554086554
KCNN2
C 0.700 GeneticVariation CLINVAR UBE3A Regulates Synaptic Plasticity and Learning and Memory by Controlling SK2 Channel Endocytosis. 26166566

2015
dbSNP: rs1554086554
rs1554086554
KCNN2
C 0.700 GeneticVariation CLINVAR Subcellular expression and neuroprotective effects of SK channels in human dopaminergic neurons. 24434522

2014
dbSNP: rs1554086554
rs1554086554
KCNN2
C 0.700 GeneticVariation CLINVAR Mitochondrial small conductance SK2 channels prevent glutamate-induced oxytosis and mitochondrial dysfunction. 23430260

2013
dbSNP: rs1554086554
rs1554086554
KCNN2
C 0.700 GeneticVariation CLINVAR Small-conductance Ca2+-activated K+ channels: form and function. 21942705

2012
dbSNP: rs1554086554
rs1554086554
KCNN2
C 0.700 GeneticVariation CLINVAR Patterns and rates of exonic de novo mutations in autism spectrum disorders. 22495311

2012
dbSNP: rs1554086554
rs1554086554
KCNN2
C 0.700 GeneticVariation CLINVAR Developmental profile of SK2 channel expression and function in CA1 neurons. 22072564

2012
dbSNP: rs1554086554
rs1554086554
KCNN2
C 0.700 GeneticVariation CLINVAR Targeting BK (big potassium) channels in epilepsy. 21923633

2011
dbSNP: rs1554086554
rs1554086554
KCNN2
C 0.700 GeneticVariation CLINVAR Altered expression and function of small-conductance (SK) Ca(2+)-activated K+ channels in pilocarpine-treated epileptic rats. 20553876

2010
dbSNP: rs1554086554
rs1554086554
KCNN2
C 0.700 GeneticVariation CLINVAR Selective activation of the SK1 subtype of human small-conductance Ca2+-activated K+ channels by 4-(2-methoxyphenylcarbamoyloxymethyl)-piperidine-1-carboxylic acid tert-butyl ester (GW542573X) is dependent on serine 293 in the S5 segment. 19515965

2009
dbSNP: rs1554086554
rs1554086554
KCNN2
C 0.700 GeneticVariation CLINVAR Behavioral effects of a deletion in Kcnn2, the gene encoding the SK2 subunit of small-conductance Ca2+-activated K+ channels. 18604572

2008
dbSNP: rs1554086554
rs1554086554
KCNN2
C 0.700 GeneticVariation CLINVAR K(+)-channel openers suppress epileptiform activities induced by 4-aminopyridine in cultured rat hippocampal neurons. 19075508

2008
dbSNP: rs1554086554
rs1554086554
KCNN2
C 0.700 GeneticVariation CLINVAR Organization and regulation of small conductance Ca2+-activated K+ channel multiprotein complexes. 17329434

2007
dbSNP: rs1554086554
rs1554086554
KCNN2
C 0.700 GeneticVariation CLINVAR Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. 15937479

2005
dbSNP: rs1554086554
rs1554086554
KCNN2
C 0.700 GeneticVariation CLINVAR Overactive bladder and incontinence in the absence of the BK large conductance Ca2+-activated K+ channel. 15184377

2004
dbSNP: rs1554086554
rs1554086554
KCNN2
C 0.700 GeneticVariation CLINVAR Comparative immunohistochemical distribution of three small-conductance Ca2+-activated potassium channel subunits, SK1, SK2, and SK3 in mouse brain. 15234350

2004
dbSNP: rs1554086554
rs1554086554
KCNN2
C 0.700 GeneticVariation CLINVAR Small conductance Ca2+-activated K+ channel knock-out mice reveal the identity of calcium-dependent afterhyperpolarization currents. 15190101

2004
dbSNP: rs1554086554
rs1554086554
KCNN2
C 0.700 GeneticVariation CLINVAR Cerebellar ataxia and Purkinje cell dysfunction caused by Ca2+-activated K+ channel deficiency. 15194823

2004
dbSNP: rs1554086554
rs1554086554
KCNN2
C 0.700 GeneticVariation CLINVAR On the cellular and network bases of epileptic seizures. 11181977

2001
dbSNP: rs1554086554
rs1554086554
KCNN2
C 0.700 GeneticVariation CLINVAR An apamin-sensitive Ca2+-activated K+ current in hippocampal pyramidal neurons. 10200319

1999