Results for the protein: P50052

Results for the Protein: P50052

1703214

186

AGTR2

NCBI, UniProt

AGTR2_HUMAN RecName: Full=Type-2 angiotensin II receptor; AltName: Full=Angiotensin II type-2 receptor; Short=AT2

Known Diseases associated with this Protein:
MENTAL RETARDATION, X-LINKED 88
MENTAL RETARDATION, X-LINKED 88 (MRX88)

7

3

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1

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Tips:

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Default View: 7tm_1 - pfam00001	Swiss-Prot Protein: P50052 Identical to: NP_000677 Default View:

Domains found on the Protein

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

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_065947	Disease	p.ARG324GLN	Mental retardation, X-linked 88 (MRX88)
dbSNP	rs5191	Polymorphism	p.ARG248LYS	N/A
Swiss-Prot	VAR_011850	Polymorphism	p.CYS268TRP	N/A
Swiss-Prot	VAR_065946	Disease	p.GLY21VAL	Mental retardation, X-linked 88 (MRX88)
Swiss-Prot	VAR_065948	Disease	p.ILE337VAL	Mental retardation, X-linked 88 (MRX88)
Swiss-Prot	VAR_049374	Polymorphism	p.TYR231HIS	N/A
OMIM	300034.0003	Disease	p.ARG324GLN	MENTAL RETARDATION, X-LINKED 88
OMIM	300034.0001	Disease	p.GLY21VAL	MENTAL RETARDATION, X-LINKED 88
OMIM	300034.0006	Disease	p.ILE53PHE	MENTAL RETARDATION, X-LINKED 88
OMIM	300034.0004	Disease	p.ILE337VAL	MENTAL RETARDATION, X-LINKED 88

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