Varaico: Literature-Extracted Genetic Variants

Gene:UBA1
Variant:p.S621C
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UBA1

NM_003334.4:p.S621C

Associated Papers

Mapping VEXAS-associated and rare UBA1 variants in the United Kingdom: Insights from patient cohorts and the general population.

Martinez Rodriguez A et al.

British Journal of Haematology, 2026

Clinical Manifestations of VEXAS Syndrome Across a Broad Spectrum of UBA1 Mutation Burden.

Anderson M et al.

Arthritis & Rheumatology (hoboken, N.j.), 2026

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

Sakuma M et al.

Leukemia, 2025

Coexistence of VEXAS Syndrome and Chronic Hepatitis B Virus Infection: a Case Report and Literature Review.

Lin K et al.

Clinical Reviews in Allergy & Immunology, 2025

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

Wadsworth PA et al.

American Journal of Clinical Pathology, 2025

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

Fiumara M et al.

Expert Review of Hematology, 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

Role of allogeneic hematopoietic cell transplantation in VEXAS syndrome.

Dias AL et al.

Annals of Hematology, 2024

VEXAS without vacuoles: Linking genotype to phenotype.

Zhukovsky S et al.

Ejhaem, 2024

Navigating therapeutic challenges in VEXAS syndrome: exploring IL-6 and JAK inhibitors at the forefront.

Li XX et al.

Molecular Medicine (cambridge, Mass.), 2024

How I diagnose and manage VEXAS syndrome.

Hagiya A et al.

American Journal of Clinical Pathology, 2024

VEXAS syndrome: An update.

Khitri MY et al.

Joint Bone Spine, 2024

VEXAS-Defining UBA1 Somatic Variants in 245,368 Diverse Individuals in the NIH All Of Us Cohort.

Corty RW et al.

Arthritis & Rheumatology (hoboken, N.j.), 2024

Shared and distinct mechanisms of UBA1 inactivation across different diseases.

Collins JC et al.

The Embo Journal, 2024

VEXAS syndrome: A review of cutaneous findings and treatments in an emerging autoinflammatory disease.

Saad AJ et al.

Experimental Dermatology, 2024

A novel XNA-based Luminex assay to detect UBA1 somatic mutations associated with VEXAS syndrome.

Ma Y et al.

Practical Laboratory Medicine, 2024

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

Koster MJ et al.

American Journal of Hematology, 2024

Vacuoles in bone marrow progenitors: VEXAS syndrome and beyond.

Lacombe V et al.

The Lancet. Haematology, 2024

VEXAS syndrome: Clinical manifestations, diagnosis, and treatment.

Loeza-Uribe MP et al.

Reumatologia Clinica, 2024

Sensitivity to targeted UBA1 inhibition in a myeloid cell line model of VEXAS syndrome.

Chiaramida A et al.

Blood Advances, 2023

VEXAS-Syndrome, a newly described autoinflammatory systemic disease with dermatologic manifestations.

Baur V et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2023

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

Recurrent Mutations of the Active Adenylation Domain of UBA1 in Atypical Form of VEXAS Syndrome.

Faurel A et al.

Hemasphere, 2023

An update on VEXAS syndrome.

Al-Hakim A et al.

Expert Review of Clinical Immunology, 2023

Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.

Beck DB et al.

Jama, 2023

Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.

Papaemmanuil E et al.

The New England Journal of Medicine, 2011

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