Variant: rs387906778 

    present in Gene: KCNJ5
    present in Chromosome: 11
    Position on Chromosome: 128911745
    Alleles of this Variant: A/G

rs387906778 in KCNJ5 gene and Andersen Syndrome PMID 24574546 2014 A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1.

rs387906778 in KCNJ5 gene and HYPERALDOSTERONISM, FAMILIAL, TYPE III PMID 22628607 2012 A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertension.

PMID 21311022 2011 K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.

PMID 27099398 2016 Mutated KCNJ5 activates the acute and chronic regulatory steps in aldosterone production.

PMID 24037882 2013 a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III.

PMID 22848660 2012 Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter.

PMID 22203740 2012 KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism.

PMID 22315453 2012 Potassium channel mutant KCNJ5 T158A expression in HAC-15 cells increases aldosterone synthesis.

PMID 22275527 2012 Prevalence, clinical, and molecular correlates of KCNJ5 mutations in primary aldosteronism.

PMID 22308486 2012 Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5.