Variant: rs104894336 

    present in Gene: AQP2
    present in Chromosome: 12
    Position on Chromosome: 49950894
    Alleles of this Variant: C/G

rs104894336 in AQP2 gene and Nephrogenic Diabetes Insipidus, Type II PMID 16120822 2005 Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus.

PMID 12191971 2002 Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus.

PMID 12050236 2002 Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families.

PMID 9048343 1997 New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels.

PMID 7524315 1994 Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene.

PMID 24944815 2014 Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene.

PMID 9745427 1998 Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function.

PMID 15509592 2004 A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L.

PMID 8140421 1994 Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine.

PMID 8882880 1996 Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus.

PMID 9302264 1997 Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response.

PMID 9649557 1998 An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex.

PMID 9402087 1997 Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus.

PMID 19701945 2009 Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus.

PMID 16361827 2005 Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus.

PMID 16845277 2006 Novel mutations underlying nephrogenic diabetes insipidus in Arab families.

PMID 19585583 2009 p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation.

PMID 9550615 1998 Aquaporin-2, a vasopressin-sensitive water channel, and nephrogenic diabetes insipidus.