Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.Y139C
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CTLA4

NM_005214.5:p.Y139C

Associated Papers

Demystifying the implications of disease-susceptible missense SNPs within CTLA-4 ligand binding domain and its interaction towards B7-1 protein complex: Bioinformatics-driven evidence.

Shamala V et al.

Computers in Biology and Medicine, 2026

Clinical, Genetic, and Immunological Spectrum of CHAI and LATAIE Patients from a Tertiary Referral Centre in India.

Setia P et al.

International Journal of Molecular Sciences, 2025

Dissection of the trans-endocytosis and signal inhibition functions of CTLA-4 through the study of a disease-associated Y139C mutation.

Zhao Z et al.

Cellular & Molecular Immunology, 2025

Immunogenetic Landscape in Pediatric Common Variable Immunodeficiency.

Szczawińska-Popłonyk A et al.

International Journal of Molecular Sciences, 2024

A Nationwide Study of the Delayed Diagnosis and the Clinical Manifestations of Predominantly Antibody Deficiencies and CTLA4-Mediated Immune Dysregulation Syndrome in Greece.

Kapousouzi A et al.

Medicina (kaunas, Lithuania), 2024

Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4-Dependent Transendocytosis by Flow Cytometry.

Rojas-Restrepo J et al.

Journal of Clinical Immunology, 2023

JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences.

Ott N et al.

Journal of Clinical Immunology, 2023

Do common infections trigger disease-onset or -severity in CTLA-4 insufficiency?

Krausz M et al.

Frontiers in Immunology, 2022

What did we learn from CTLA-4 insufficiency on the human immune system?

Mitsuiki N et al.

Immunological Reviews, 2019

Preponderance of CTLA4 Variation Associated With Autosomal Dominant Immune Dysregulation in the MYPPPY Motif.

Siggs OM et al.

Frontiers in Immunology, 2019

An Activating Janus Kinase-3 Mutation Is Associated with Cytotoxic T Lymphocyte Antigen-4-Dependent Immune Dysregulation Syndrome.

Sic H et al.

Frontiers in Immunology, 2017

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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."