Varaico: Literature-Extracted Genetic Variants

Gene:TYK2
Variant:p.P760L
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TYK2

NM_003331.5:p.P760L

Associated Papers

Spotlight on amino acid changing mutations in the JAK-STAT pathway: from disease-specific mutation to general mutation databases.

Hoffmann M et al.

Scientific Reports, 2025

39979591 (PubMed )
Supplement: 41598_2025_90788_MOESM2_ESM.docx

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

Oncogenic TYK2 P760L kinase is effectively targeted by combinatorial TYK2, mTOR and CDK4/6 kinase blockade.

Woess K et al.

Haematologica, 2023

TYK2 Variants in B-Acute Lymphoblastic Leukaemia.

Turrubiartes-Martínez E et al.

Genes, 2020

A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.

Rotunno M et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2020

High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer.

Diets IJ et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018

Germline activating TYK2 mutations in pediatric patients with two primary acute lymphoblastic leukemia occurrences.

Waanders E et al.

Leukemia, 2017

A new heterozygous TYK2 gene mutation: Case report and review of the literature.

Xie L et al.

International Journal of Immunopathology and Pharmacology, 0

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