Varaico: Literature-Extracted Genetic Variants

Gene:STAT6
Variant:p.D519N
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STAT6

NM_003153.5:p.D519N

Associated Papers

STAT6 gain-of-function disease: p.D519N is a new disease-causing variant that responds well to dupilumab treatment.

Samra S et al.

The Journal of Allergy and Clinical Immunology. Global, 2025

Genetic subtyping by Whole Exome Sequencing across Diffuse Large B Cell Lymphoma and Plasmablastic Lymphoma.

Pomares AA et al.

Plos One, 2025

40067847 (PubMed )
Supplement: pone.0318689.s001.zip › supplementary_material › TABLE_S3._Mutations_in_DLBCL__86_cases_.xlsx › Hoja1

Neoantigen landscape supports feasibility of personalized cancer vaccine for follicular lymphoma.

Ramirez CA et al.

Blood Advances, 2024

38713894 (PubMed )
Supplement: BLOODA_ADV-2022-007792-mmc6.xlsx › Supp_Table6

Identification of genetic subtypes in follicular lymphoma.

Shelton V et al.

Blood Cancer Journal, 2024

39112453 (PubMed )
Supplement: 41408_2024_1111_MOESM2_ESM.xlsx › ST5_-_mutations

Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.

Gao F et al.

Cancer Medicine, 2023

36971051 (PubMed )
Supplement: CAM4-12-10267-s001.xlsx › Sheet1

Targeted genotyping of circulating tumor DNA for classical Hodgkin lymphoma monitoring: a prospective study.

Camus V et al.

Haematologica, 2021

Genetic Landscape of Relapsed and Refractory Diffuse Large B-Cell Lymphoma: A Systemic Review and Association Analysis With Next-Generation Sequencing.

Gao F et al.

Frontiers in Genetics, 2021

34925435 (PubMed )
Supplement: DataSheet2.xlsx › Sheet1

Pervasive mutations of JAK-STAT pathway genes in classical Hodgkin lymphoma.

Tiacci E et al.

Blood, 2018

Differences between BCL2-break positive and negative follicular lymphoma unraveled by whole-exome sequencing.

Zamò A et al.

Leukemia, 2018

28824170 (PubMed )
Supplement: 41375_2018_BFleu2017270_MOESM101_ESM.xlsx › S_Table_3b

Enhancer sequence variants and transcription-factor deregulation synergize to construct pathogenic regulatory circuits in B-cell lymphoma.

Koues OI et al.

Immunity, 2015

25607463 (PubMed )
Supplement: 1-s2.0-S1074761314004889-mmc2.xlsx › Sheet2
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."