Variant: rs121918043 

    present in Gene: PKD2
    present in Chromosome: 4
    Position on Chromosome: 88046854
    Alleles of this Variant: A/T

rs121918043 in PKD2 gene and Polycystic kidney disease, type 2 PMID 10541293 1999 Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease.

PMID 11968093 2002 Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease.

PMID 10411676 1999 Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease.

PMID 9326320 1997 A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).

PMID 29899465 2018 Hydrophobic pore gates regulate ion permeation in polycystic kidney disease 2 and 2L1 channels.

PMID 15772804 2005 Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.

PMID 27214281 2016 The polycystin complex mediates Wnt/Ca(2+) signalling.

PMID 12707387 2003 Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.

PMID 21115670 2011 Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).

PMID 14993477 2004 PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease.

PMID 10835625 2000 Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.

PMID 11854751 2002 Polycystin-2 is an intracellular calcium release channel.

PMID 27071085 2016 Function and regulation of TRPP2 ion channel revealed by a gain-of-function mutant.