Results for the protein: P30518

Results for the Protein: P30518

267256

554

AVPR2

NCBI, UniProt

V2R_HUMAN RecName: Full=Vasopressin V2 receptor; Short=V2R; AltName: Full=AVPR V2; AltName: Full=Antidiuretic hormone receptor; AltName: Full=Renal-type arginine vasopressin receptor

Known Diseases associated with this Protein:
  DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
  DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED (XNDI)
  NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS
  NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS (NSIAD)

100

13

17

4

92

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Default View:	Swiss-Prot Protein: P30518 Identical to: NP_000045 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_003527	Disease	p.ALA132ASP	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015308	Disease	p.ALA84ASP	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015324	Disease	p.ALA163PRO	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_003542	Polymorphism	p.ALA285PRO	N/A
Swiss-Prot	VAR_015345	Disease	p.ALA294PRO	Diabetes insipidus, nephrogenic, X-linked (XNDI)
dbSNP	rs5200	Polymorphism	p.ALA147VAL	N/A
dbSNP	rs5198	Polymorphism	p.ALA42VAL	N/A
Swiss-Prot	VAR_015303	Polymorphism	p.ALA61VAL	N/A
Swiss-Prot	VAR_015314	Disease	p.ARG104CYS	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_003522	Disease	p.ARG106CYS	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_025901	Disease	p.ARG137CYS	Nephrogenic syndrome of inappropriate antidiuresis (NSIAD)
Swiss-Prot	VAR_003534	Disease	p.ARG181CYS	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_003536	Disease	p.ARG202CYS	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_003537	Disease	p.ARG203CYS	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_003528	Disease	p.ARG137HIS	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_035769	Polymorphism	p.ARG247HIS	N/A
Swiss-Prot	VAR_025902	Disease	p.ARG137LEU	Nephrogenic syndrome of inappropriate antidiuresis (NSIAD)
Swiss-Prot	VAR_003529	Disease	p.ARG143PRO	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015323	Polymorphism	p.ARG139SER	N/A
Swiss-Prot	VAR_003524	Disease	p.ARG113TRP	Diabetes insipidus, nephrogenic, X-linked (XNDI)
dbSNP	rs61733407	Polymorphism	p.ARG252TRP	N/A
Swiss-Prot	VAR_003519	Polymorphism	p.ARG64TRP	N/A
Swiss-Prot	VAR_015350	Disease	p.ASN321ASP	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015300	Disease	p.ASN55ASP	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015301	Disease	p.ASN55HIS	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_003547	Disease	p.ASN317LYS	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015351	Disease	p.ASN321LYS	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015352	Disease	p.ASN321TYR	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015309	Disease	p.ASP85ASN	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015327	Disease	p.ASP191GLY	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_003523	Disease	p.CYS112ARG	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015349	Disease	p.CYS319ARG	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015317	Disease	p.CYS112TYR	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015310	Disease	p.GLN92ARG	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015326	Disease	p.GLN174LEU	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015318	Disease	p.GLY122ARG	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_062591	Disease	p.GLY122ASP	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015328	Disease	p.GLY201ASP	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015356	Polymorphism	p.GLY352ASP	N/A
Swiss-Prot	VAR_003535	Disease	p.GLY185CYS	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015316	Disease	p.GLY107GLU	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015296	Polymorphism	p.GLY12GLU	N/A
Swiss-Prot	VAR_003520	Disease	p.HIS80ARG	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015298	Disease	p.ILE46LYS	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015321	Disease	p.ILE130PHE	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015332	Disease	p.ILE209PHE	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015337	Disease	p.LEU219ARG	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015346	Disease	p.LEU309ARG	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015299	Disease	p.LEU53ARG	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015307	Disease	p.LEU83GLN	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015311	Disease	p.LEU94GLN	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015305	Disease	p.LEU81PHE	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015322	Disease	p.LEU135PRO	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015336	Disease	p.LEU219PRO	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015341	Disease	p.LEU282PRO	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015344	Disease	p.LEU289PRO	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_003545	Disease	p.LEU292PRO	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_003546	Disease	p.LEU309PRO	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015297	Disease	p.LEU43PRO	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_003517	Disease	p.LEU44PRO	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015302	Disease	p.LEU59PRO	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015304	Disease	p.LEU62PRO	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015306	Disease	p.LEU83PRO	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015319	Disease	p.MET123LYS	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015339	Disease	p.MET272LYS	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015343	Disease	p.PHE287LEU	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015333	Disease	p.PHE214SER	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015315	Disease	p.PHE105VAL	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_003544	Disease	p.PRO286ARG	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015353	Disease	p.PRO322HIS	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_003543	Disease	p.PRO286LEU	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015312	Disease	p.PRO95LEU	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015325	Disease	p.PRO173SER	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015342	Disease	p.PRO286SER	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015354	Disease	p.PRO322SER	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015335	Disease	p.PRO217THR	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015347	Disease	p.SER315ARG	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_003532	Disease	p.SER167LEU	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_003525	Disease	p.SER126PHE	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015320	Disease	p.SER127PHE	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_003533	Disease	p.SER167THR	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015348	Polymorphism	p.SER318THR	N/A
Swiss-Prot	VAR_015329	Disease	p.THR204ASN	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015331	Disease	p.THR207ASN	Diabetes insipidus, nephrogenic, X-linked (XNDI)
dbSNP	rs5196	Polymorphism	p.THR7SER	N/A
Swiss-Prot	VAR_015355	Disease	p.TRP323ARG	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015313	Disease	p.TRP99ARG	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_003531	Disease	p.TRP164SER	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_003548	Disease	p.TRP323SER	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_003538	Disease	p.TYR205CYS	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_003541	Disease	p.TYR280CYS	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_003526	Disease	p.TYR128SER	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015340	Disease	p.VAL277ALA	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015330	Disease	p.VAL206ASP	Diabetes insipidus, nephrogenic, X-linked (XNDI)
Swiss-Prot	VAR_015334	Polymorphism	p.VAL215MET	N/A
Swiss-Prot	VAR_003521	Disease	p.VAL88MET	Diabetes insipidus, nephrogenic, X-linked (XNDI)
OMIM	300538.0002	Disease	p.ALA132ASP	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
OMIM	300538.0020	Disease	p.ARG104CYS	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
OMIM	300538.0021	Disease	p.ARG137CYS	NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS
OMIM	300538.0016	Disease	p.ARG181CYS	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
OMIM	300538.0005	Disease	p.ARG203CYS	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
OMIM	300538.0015	Disease	p.ARG137HIS	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
OMIM	300538.0022	Disease	p.ARG137LEU	NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS
OMIM	300538.0010	Disease	p.ARG337TER	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
OMIM	300538.0006	Disease	p.ARG113TRP	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
OMIM	300538.0011	Disease	p.ASP85ASN	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
OMIM	300538.0012	Disease	p.GLY201ASP	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
OMIM	300538.0003	Disease	p.GLY185CYS	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
OMIM	300538.0018	Disease	p.ILE46LYS	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
OMIM	300538.0017	Disease	p.PHE105VAL	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
OMIM	300538.0008	Disease	p.TRP71TER	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
OMIM	300538.0004	Disease	p.TYR205CYS	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
OMIM	300538.0009	Disease	p.TYR280CYS	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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