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Results for the Protein: P41181
728874
359

AQP2_HUMAN RecName: Full=Aquaporin-2; Short=AQP-2; AltName: Full=ADH water channel; AltName: Full=Aquaporin-CD; Short=AQP-CD; AltName: Full=Collecting duct water channel protein; AltName: Full=WCH-CD; AltName: Full=Water channel protein for renal collecting duct

Known Diseases associated with this Protein:
  DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL (ANDI)
  DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT
  DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
42
2
15
0
29
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Default View:

MIP - pfam00230
GlpF - COG0580
MIP - cd00333


Swiss-Prot Protein: P41181
Identical to: NP_000477
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MIPcd003333.6e-10411222
MIPpfam002303.5e-1253219

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_062585Diseasep.ALA70ASPDiabetes insipidus, nephrogenic, autosomal (ANDI)
Swiss-ProtVAR_015246Diseasep.ALA147THRDiabetes insipidus, nephrogenic, autosomal (ANDI)
Swiss-ProtVAR_015251Diseasep.ALA190THRDiabetes insipidus, nephrogenic, autosomal (ANDI)
Swiss-ProtVAR_015241Diseasep.ALA47VALDiabetes insipidus, nephrogenic, autosomal (ANDI)
Swiss-ProtVAR_004402Diseasep.ARG187CYSDiabetes insipidus, nephrogenic, autosomal (ANDI)
Swiss-ProtVAR_062590Diseasep.ARG254GLNDiabetes insipidus, nephrogenic, autosomal (ANDI)
Swiss-ProtVAR_062588Diseasep.ARG187HISDiabetes insipidus, nephrogenic, autosomal (ANDI)
Swiss-ProtVAR_062589Diseasep.ARG254LEUDiabetes insipidus, nephrogenic, autosomal (ANDI)
Swiss-ProtVAR_015242Diseasep.ASN68SERDiabetes insipidus, nephrogenic, autosomal (ANDI)
Swiss-ProtVAR_015249Diseasep.CYS181TRPDiabetes insipidus, nephrogenic, autosomal (ANDI)
Swiss-ProtVAR_015256Diseasep.GLN57PRODiabetes insipidus, nephrogenic, autosomal (ANDI)
Swiss-ProtVAR_015254Diseasep.GLU258LYSDiabetes insipidus, nephrogenic, autosomal (ANDI)
Swiss-ProtVAR_062586Diseasep.GLY100ARGDiabetes insipidus, nephrogenic, autosomal (ANDI)
Swiss-ProtVAR_015248Diseasep.GLY175ARGDiabetes insipidus, nephrogenic, autosomal (ANDI)
Swiss-ProtVAR_004401Diseasep.GLY64ARGDiabetes insipidus, nephrogenic, autosomal (ANDI)
Swiss-ProtVAR_062587Diseasep.GLY180SERDiabetes insipidus, nephrogenic, autosomal (ANDI)
Swiss-ProtVAR_015257Diseasep.GLY100VALDiabetes insipidus, nephrogenic, autosomal (ANDI)
Swiss-ProtVAR_037577Polymorphismp.LEU121PHEN/A
Swiss-ProtVAR_015240Diseasep.LEU28PRODiabetes insipidus, nephrogenic, autosomal (ANDI)
Swiss-ProtVAR_015239Diseasep.LEU22VALDiabetes insipidus, nephrogenic, autosomal (ANDI)
Swiss-ProtVAR_015250Diseasep.PRO185ALADiabetes insipidus, nephrogenic, autosomal (ANDI)
Swiss-ProtVAR_015255Diseasep.PRO262LEUDiabetes insipidus, nephrogenic, autosomal (ANDI)
Swiss-ProtVAR_004403Diseasep.SER216PRODiabetes insipidus, nephrogenic, autosomal (ANDI)
Swiss-ProtVAR_015244Diseasep.THR125METDiabetes insipidus, nephrogenic, autosomal (ANDI)
Swiss-ProtVAR_015245Diseasep.THR126METDiabetes insipidus, nephrogenic, autosomal (ANDI)
Swiss-ProtVAR_015253Diseasep.TRP202CYSDiabetes insipidus, nephrogenic, autosomal (ANDI)
Swiss-ProtVAR_015252Polymorphismp.VAL194ILEN/A
Swiss-ProtVAR_015247Diseasep.VAL168METDiabetes insipidus, nephrogenic, autosomal (ANDI)
Swiss-ProtVAR_015243Diseasep.VAL71METDiabetes insipidus, nephrogenic, autosomal (ANDI)
OMIM107777.0006 Diseasep.ALA147THRDIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
OMIM107777.0019 Diseasep.ALA190THRDIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
OMIM107777.0001 Diseasep.ARG187CYSDIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
OMIM107777.0008 Diseasep.ASN68SERDIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
OMIM107777.0013 Diseasep.CYS181TRPDIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
OMIM107777.0016 Diseasep.GLN57PRODIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
OMIM107777.0009 Diseasep.GLU258LYSDIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT
OMIM107777.0011 Diseasep.GLY175ARGDIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
OMIM107777.0004 Diseasep.GLY64ARGDIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
OMIM107777.0017 Diseasep.GLY100VALDIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
OMIM107777.0012 Diseasep.LEU22VALDIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
OMIM107777.0018 Diseasep.PRO262LEUDIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
OMIM107777.0002 Diseasep.SER216PRODIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
OMIM107777.0010 Diseasep.THR125METDIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
OMIM107777.0007 Diseasep.THR126METDIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE



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