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Results for the Protein: P40763
48429227

STAT3_HUMAN RecName: Full=Signal transducer and activator of transcription 3; AltName: Full=Acute-phase response factor

Known Diseases associated with this Protein:
  HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT
  HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT (AD-HIES)
20
3
6
0
17
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Default View:

STAT_int - pfam02865
STAT_alpha - pfam01017
STAT_bind - pfam02864
SH2 - cd00173
SH2 - pfam00017


Swiss-Prot Protein: P40763
Identical to: NP_644805
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SH2cd001730.00042583674
STAT_intpfam028654.2e-662122
STAT_alphapfam010174.9e-87138319
STAT_bindpfam028647.4e-183321574
SH2pfam000176.7e-22584674

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_037366Diseasep.ARG382GLNHyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES)
Swiss-ProtVAR_037371Diseasep.ARG423GLNHyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES)
Swiss-ProtVAR_037365Diseasep.ARG382LEUHyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES)
Swiss-ProtVAR_037367Diseasep.ARG382TRPHyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES)
Swiss-ProtVAR_018683Polymorphismp.GLN32LYSN/A
Swiss-ProtVAR_037372Diseasep.HIS437TYRHyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES)
Swiss-ProtVAR_018679Polymorphismp.MET143ILEN/A
Swiss-ProtVAR_037368Diseasep.PHE384LEUHyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES)
Swiss-ProtVAR_037369Diseasep.PHE384SERHyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES)
Swiss-ProtVAR_037374Polymorphismp.PHE561TYRN/A
Swiss-ProtVAR_037376Diseasep.PHE621VALHyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES)
Swiss-ProtVAR_037375Diseasep.SER611ASNHyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES)
Swiss-ProtVAR_037370Diseasep.THR389ILEHyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES)
Swiss-ProtVAR_037377Diseasep.THR622ILEHyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES)
Swiss-ProtVAR_037381Diseasep.TYR657CYSHyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES)
Swiss-ProtVAR_037378Diseasep.VAL637LEUHyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES)
Swiss-ProtVAR_037379Diseasep.VAL637METHyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES)
OMIM102582.0003 Diseasep.ARG382GLNHYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT
OMIM102582.0004 Diseasep.ARG423GLNHYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT
OMIM102582.0005 Diseasep.ARG383LEUHYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT
OMIM102582.0002 Diseasep.ARG382TRPHYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT
OMIM102582.0007 Diseasep.THR389ILEHYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT
OMIM102582.0006 Diseasep.VAL637METHYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT



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