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Results for the Protein: NP_998827
47458820

signal transducer and activator of transcription 3 isoform 3 [Homo sapiens]

Known Diseases associated with this Protein:
  HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT
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Default View:

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


RefSeq Protein: NP_998827
   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 ↕
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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