AVPR2, arginine vasopressin receptor 2, 554

N. diseases: 134; N. variants: 38
Disease: Nephrogenic Diabetes Insipidus, Type I ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894756
rs104894756
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I 		0.720 GeneticVariation BEFREE Interestingly, we show in this report that upon heteromer formation with SCTR, R137H, a NDI-causing AVPR2 mutant that is defective in trafficking to cell surface, can functionally be rescued. 27649563 2016
dbSNP: rs104894756
rs104894756
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I 		0.720 GeneticVariation BEFREE Thus, in this family, the R137H mutation is associated with either a mild or severe NDI phenotype. 11920339 2002
dbSNP: rs104894748
rs104894748
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I 		0.710 GeneticVariation BEFREE In addition to the functional significance of the conserved cysteine residues, we have also analyzed the defects of two mutant V2 receptors which cause X-linked nephrogenic diabetes insipidus (NDI) by the introduction of additional cysteine residues into the second extracellular loop (mutants G185C, R202C). 10648821 2000
dbSNP: rs104894754
rs104894754
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I 		0.710 GeneticVariation BEFREE To date, only three AVPR2 mutations (P322S, D85N, and G201D) have been associated with a mild NDI phenotype, and intrafamilial phenotype variability has not been reported in affected males. 11920339 2002
dbSNP: rs104894755
rs104894755
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I 		0.710 GeneticVariation BEFREE To date, only three AVPR2 mutations (P322S, D85N, and G201D) have been associated with a mild NDI phenotype, and intrafamilial phenotype variability has not been reported in affected males. 11920339 2002
dbSNP: rs104894751
rs104894751
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I 		0.010 GeneticVariation BEFREE The Hopewell mutation (W71X) causes the disease in the largest North American NDI pedigree, with most of its members residing on Nova Scotia. 7920187 1994
dbSNP: rs1057518723
rs1057518723
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1557100304
rs1557100304
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1557100594
rs1557100594
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I 		C 0.700 CausalMutation CLINVAR
dbSNP: rs886040961
rs886040961
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I 		A 0.700 CausalMutation CLINVAR
dbSNP: rs104894756
rs104894756
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I 		0.720 GeneticVariation UNIPROT 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. 7984150 1994
dbSNP: rs104894756
rs104894756
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I 		0.720 GeneticVariation UNIPROT The property of a novel v2 receptor mutant in a patient with nephrogenic diabetes insipidus. 11232028 2001
dbSNP: rs104894756
rs104894756
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I 		0.720 GeneticVariation UNIPROT Novel mutations in the V2 vasopressin receptor gene in two pedigrees with congenital nephrogenic diabetes insipidus. 8045948 1994
dbSNP: rs104894756
rs104894756
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I 		0.720 GeneticVariation UNIPROT Brief report: a molecular defect in the vasopressin V2-receptor gene causing nephrogenic diabetes insipidus. 8479490 1993
dbSNP: rs104894756
rs104894756
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I 		0.720 GeneticVariation UNIPROT Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus. 7560098 1995
dbSNP: rs104894756
rs104894756
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I 		0.720 GeneticVariation UNIPROT Nephrogenic diabetes insipidus. A V2 vasopressin receptor unable to stimulate adenylyl cyclase. 8514744 1993
dbSNP: rs104894756
rs104894756
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I 		0.720 GeneticVariation UNIPROT Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. 1303271 1992
dbSNP: rs104894756
rs104894756
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I 		0.720 GeneticVariation UNIPROT Two novel mutations in the vasopressin V2 receptor gene in unrelated Japanese kindreds with nephrogenic diabetes insipidus. 8267567 1993
dbSNP: rs104894756
rs104894756
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I 		0.720 GeneticVariation UNIPROT Novel mutations underlying nephrogenic diabetes insipidus in Arab families. 16845277 2006
dbSNP: rs104894756
rs104894756
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I 		0.720 GeneticVariation UNIPROT Misfolded vasopressin V2 receptors caused by extracellular point mutations entail congential nephrogenic diabetes insipidus. 11026555 2000
dbSNP: rs104894756
rs104894756
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I 		0.720 GeneticVariation UNIPROT C112R, W323S, N317K mutations in the vasopressin V2 receptor gene in patients with nephrogenic diabetes insipidus. Mutations in brief no. 165. Online. 10694923 1998
dbSNP: rs104894756
rs104894756
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I 		0.720 GeneticVariation UNIPROT V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms. 9711877 1998
dbSNP: rs104894756
rs104894756
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I 		0.720 GeneticVariation UNIPROT Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus. 1303257 1992
dbSNP: rs104894756
rs104894756
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I 		0.720 GeneticVariation UNIPROT Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus. 7987330 1994
dbSNP: rs104894756
rs104894756
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I 		0.720 GeneticVariation UNIPROT Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families. 10770218 2000