AVPR2, arginine vasopressin receptor 2, 554

N. diseases: 134; N. variants: 38
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894761
rs104894761
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1845202
Disease:
Nephrogenic Syndrome of Inappropriate Antidiuresis 		0.810 GeneticVariation BEFREE We report on a family affected by NSIAD with the known mutation R137C, an arginine to cysteine substitution at amino acid 137. 22154540 2012
dbSNP: rs104894761
rs104894761
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1845202
Disease:
Nephrogenic Syndrome of Inappropriate Antidiuresis 		0.810 GeneticVariation UNIPROT Nephrogenic syndrome of inappropriate antidiuresis. 15872203 2005
dbSNP: rs104894761
rs104894761
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1845202
Disease:
Nephrogenic Syndrome of Inappropriate Antidiuresis 		T 0.810 CausalMutation CLINVAR
dbSNP: rs104894756
rs104894756
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1845202
Disease:
Nephrogenic Syndrome of Inappropriate Antidiuresis 		0.800 GeneticVariation UNIPROT Nephrogenic syndrome of inappropriate antidiuresis. 15872203 2005
dbSNP: rs104894756
rs104894756
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1845202
Disease:
Nephrogenic Syndrome of Inappropriate Antidiuresis 		T 0.800 CausalMutation CLINVAR
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 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 BEFREE Thus, in this family, the R137H mutation is associated with either a mild or severe NDI phenotype. 11920339 2002
dbSNP: rs104894756
rs104894756
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I 		0.720 GeneticVariation UNIPROT Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients. 11916004 2002
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 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 Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families. 10770218 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 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. 9452109 1998
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 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 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 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 Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus. 7833930 1994
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: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal. 8078903 1994
dbSNP: rs104894756
rs104894756
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I 		0.720 GeneticVariation UNIPROT Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. 8037205 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 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 Two novel mutations in the vasopressin V2 receptor gene in unrelated Japanese kindreds with nephrogenic diabetes insipidus. 8267567 1993