Variant: rs104894756 

    present in Gene: AVPR2
    present in Chromosome: X
    Position on Chromosome: 153905916
    Alleles of this Variant: G/A;T

rs104894756 in AVPR2 gene and Nephrogenic Diabetes Insipidus, Type I PMID 8078903 1994 Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal.

PMID 7987330 1994 Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus.

PMID 11232028 2001 The property of a novel v2 receptor mutant in a patient with nephrogenic diabetes insipidus.

PMID 7833930 1994 Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus.

PMID 1303257 1992 Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus.

PMID 10770218 2000 Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families.

PMID 7560098 1995 Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus.

PMID 8479490 1993 Brief report: a molecular defect in the vasopressin V2-receptor gene causing nephrogenic diabetes insipidus.

PMID 11026555 2000 Misfolded vasopressin V2 receptors caused by extracellular point mutations entail congential nephrogenic diabetes insipidus.

PMID 8514744 1993 Nephrogenic diabetes insipidus. A V2 vasopressin receptor unable to stimulate adenylyl cyclase.

PMID 11916004 2002 Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients.

PMID 1303271 1992 Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus.

PMID 9711877 1998 V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms.

PMID 7984150 1994 An extracellular congenital nephrogenic diabetes insipidus mutation of the vasopressin receptor reduces cell surface expression, affinity for ligand, and coupling to the Gs/adenylyl cyclase system.

PMID 9452109 1998 Mutational analyses of AVPR2 gene in three Japanese families with X-linked nephrogenic diabetes insipidus: two recurrent mutations, R137H and deltaV278, caused by the hypermutability at CpG dinucleotides.

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

PMID 8267567 1993 Two novel mutations in the vasopressin V2 receptor gene in unrelated Japanese kindreds with nephrogenic diabetes insipidus.

PMID 8037205 1994 Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus.

PMID 10694923 1998 C112R, W323S, N317K mutations in the vasopressin V2 receptor gene in patients with nephrogenic diabetes insipidus. Mutations in brief no. 165. Online.

PMID 8045948 1994 Novel mutations in the V2 vasopressin receptor gene in two pedigrees with congenital nephrogenic diabetes insipidus.

rs104894756 in AVPR2 gene and Nephrogenic Syndrome of Inappropriate Antidiuresis PMID 15872203 2005 Nephrogenic syndrome of inappropriate antidiuresis.