Variant: rs113994135 

    present in Gene: STAT3
    present in Chromosome: 17
    Position on Chromosome: 42329643
    Alleles of this Variant: G/A

rs113994135 in STAT3 gene and HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT PMID 22581330 2012 STAT3 mutations correlated with hyper-IgE syndrome lead to blockage of IL-6/STAT3 signalling pathway.

PMID 17881745 2007 STAT3 mutations in the hyper-IgE syndrome.

PMID 24452316 2014 Variable clinical expressivity of STAT3 mutation in hyperimmunoglobulin E syndrome: genetic and clinical studies of six patients.

PMID 21324546 2011 Clinical, immunological and genetic features in Taiwanese patients with the phenotype of hyper-immunoglobulin E recurrent infection syndromes (HIES).

PMID 17676033 2007 Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome.

PMID 17942886 2007 STAT3 mutation in the original patient with Job's syndrome.

rs113994135 in STAT3 gene and STAT3 Gain of Function PMID 22581330 2012 STAT3 mutations correlated with hyper-IgE syndrome lead to blockage of IL-6/STAT3 signalling pathway.

PMID 17942886 2007 STAT3 mutation in the original patient with Job's syndrome.

PMID 21324546 2011 Clinical, immunological and genetic features in Taiwanese patients with the phenotype of hyper-immunoglobulin E recurrent infection syndromes (HIES).

PMID 17676033 2007 Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome.

PMID 17881745 2007 STAT3 mutations in the hyper-IgE syndrome.

PMID 24452316 2014 Variable clinical expressivity of STAT3 mutation in hyperimmunoglobulin E syndrome: genetic and clinical studies of six patients.