Varaico: Literature-Extracted Genetic Variants

Gene:STAT5B
Variant:p.Q177P
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STAT5B

NM_012448.4:p.Q177P

Associated Papers

Mosaic variants in KRAS and STAT5B associated with a mixed phenotype of 2 acquired errors of immunity.

Forkgen J et al.

The Journal of Allergy and Clinical Immunology, 2026

Inborn errors of regulatory T-cell differentiation and function.

Oktelik FB et al.

The Journal of Allergy and Clinical Immunology, 2025

JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.

Djidjik R et al.

Frontiers in Immunology, 2025

41438753 (PubMed )
Supplement: Table1.pdf

QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction.

Maharaj AV et al.

Nature Communications, 2024

STAT5B restrains human B-cell differentiation to maintain humoral immune homeostasis.

Pelham SJ et al.

The Journal of Allergy and Clinical Immunology, 2022

A novel gain-of-function mutation in STAT5B is associated with treatment-resistant severe atopic dermatitis.

Kasap N et al.

Clinical and Experimental Allergy : Journal of the British Society for Allergy and Clinical Immunology, 2022

Structural and mutational analysis of member-specific STAT functions.

Erdogan F et al.

Biochimica Et Biophysica Acta. General Subjects, 2022

STAT5b: A master regulator of key biological pathways.

Smith MR et al.

Frontiers in Immunology, 2022

Human growth disorders associated with impaired GH action: Defects in STAT5B and JAK2.

Hwa V

Molecular and Cellular Endocrinology, 2021

Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action.

Storr HL et al.

Endocrine Reviews, 2019

Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain.

Acres MJ et al.

The Journal of Allergy and Clinical Immunology, 2019

Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.

Klammt J et al.

Nature Communications, 2018

STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability.

Scalco RC et al.

European Journal of Endocrinology, 2015

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