Varaico: Literature-Extracted Genetic Variants

Gene:STAT6
Variant:p.E382Q
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STAT6

NM_003153.5:p.E382Q

Associated Papers

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

JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences.

Ott N et al.

Journal of Clinical Immunology, 2023

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.

Sharma M et al.

The Journal of Experimental Medicine, 2023

Circulating tumor DNA mutation profile is associated with the prognosis and treatment response of Chinese patients with newly diagnosed diffuse large B-cell lymphoma.

Guan T et al.

Frontiers in Oncology, 2022

36465410 (PubMed )
Supplement: DataSheet_1.xlsx › Supplementary_table_3

The exomic landscape of t(14;18)-negative diffuse follicular lymphoma with 1p36 deletion.

Zamò A et al.

British Journal of Haematology, 2018

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