Varaico: Literature-Extracted Genetic Variants

Gene:UBA1
Variant:p.Y55H
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UBA1

NM_003334.4:p.Y55H

Associated Papers

Distinct characteristics of VEXAS-causative UBA1 M41 and recurrent functional non-M41 mutations.

Sakuma M et al.

Leukemia, 2025

Rapid clinical deployment of UBA1 testing in patients with VEXAS syndrome.

Wadsworth PA et al.

American Journal of Clinical Pathology, 2025

VEXAS syndrome.

Nakajima H et al.

International Journal of Hematology, 2025

Clonal hematopoiesis meets an autoinflammatory disease: the new paradigm of VEXAS syndrome.

Fiumara M et al.

Expert Review of Hematology, 2025

Rapid Screening and Monitoring of UBA1 Mutations in VEXAS Syndrome.

Martín Castillo I et al.

The Journal of Molecular Diagnostics : Jmd, 2025

VEXAS syndrome: A newly identified X-Linked hematoinflammatory disorder - A comprehensive overview of its genetic, molecular, inflammatory, and clinical landscape.

Singh A et al.

Journal of Autoimmunity, 2025

VEXAS: A review of current understandings and emerging treatment strategies.

Holden R et al.

Frontiers in Immunology, 2025

VEXAS without vacuoles: Linking genotype to phenotype.

Zhukovsky S et al.

Ejhaem, 2024

VEXAS syndrome: An update.

Khitri MY et al.

Joint Bone Spine, 2024

Distinct bone marrow findings associated with a noncanonical UBA1 variant in VEXAS syndrome.

Allison DR et al.

American Journal of Hematology, 2024

Shared and distinct mechanisms of UBA1 inactivation across different diseases.

Collins JC et al.

The Embo Journal, 2024

VEXAS syndrome: Clinical, hematologic features and a practical approach to diagnosis and management.

Koster MJ et al.

American Journal of Hematology, 2024

Shared and Distinct Mechanisms of UBA1 Inactivation Across Different Diseases.

Collins JC et al.

Biorxiv : the Preprint Server for Biology, 2023

Novel causative variants of VEXAS in UBA1 detected through whole genome transcriptome sequencing in a large cohort of hematological malignancies.

Sakuma M et al.

Leukemia, 2023

36823397 (PubMed )
Supplement: 41375_2023_1857_MOESM3_ESM.xlsx › Supplementary_Table_3
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