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Results for the Protein: P30556
231519
185

AGTR1_HUMAN RecName: Full=Type-1 angiotensin II receptor; AltName: Full=AT1AR; AltName: Full=AT1BR; AltName: Full=Angiotensin II type-1 receptor; Short=AT1

Known Diseases associated with this Protein:
  RENAL TUBULAR DYSGENESIS
  RENAL TUBULAR DYSGENESIS (RTD)
4
7
3
0
8
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Default View:

7tm_1 - pfam00001


Swiss-Prot Protein: P30556
Identical to: NP_000676, NP_033611
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
7tm_1pfam000012e-8951302

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_029207Polymorphismp.ALA244SERN/A
Swiss-ProtVAR_029206Polymorphismp.ALA163THRN/A
Swiss-ProtVAR_011847Polymorphismp.CYS289TRPN/A
Swiss-ProtVAR_070375Polymorphismp.LEU222VALN/A
Swiss-ProtVAR_011846Polymorphismp.LEU48VALN/A
Swiss-ProtVAR_070376Polymorphismp.PRO341HISN/A
Swiss-ProtVAR_035086Diseasep.THR282METRenal tubular dysgenesis (RTD)
Swiss-ProtVAR_011848Polymorphismp.THR336PRON/A
OMIM106165.0006 Diseasep.ARG91TERRENAL TUBULAR DYSGENESIS
OMIM106165.0004 Diseasep.THR247METRENAL TUBULAR DYSGENESIS
OMIM106165.0005 Diseasep.TRP49TERRENAL TUBULAR DYSGENESIS



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