Varaico: Literature-Extracted Genetic Variants

Gene:STAT6
Variant:p.D519H
Back to variants list

STAT6

NM_003153.5:p.D519H

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

CoDIAC: A comprehensive approach for interaction analysis reveals novel insights into SH2 domain function and regulation.

Kandoor A et al.

Biorxiv : the Preprint Server for Biology, 2025

39091881 (PubMed )
Supplement: media-5.xlsx › B.Mutation_classification

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

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 for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.

Bruscaggin A et al.

Blood Advances, 2021

34500472 (PubMed )
Supplement: advancesADV2021004528-suppl2.xlsx › Table_S7

Circulating tumor DNA predicts response in Chinese patients with relapsed or refractory classical hodgkin lymphoma treated with sintilimab.

Shi Y et al.

Ebiomedicine, 2020

32304999 (PubMed )
Supplement: mmc1.xlsx › 4.mutations

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

Tiacci E et al.

Blood, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."