Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.P137R
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CTLA4

NM_005214.5:p.P137R

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

Computational analysis of structural and functional evaluation of the deleterious missense variants in the human CTLA4 gene.

Bouqdayr M et al.

Journal of Biomolecular Structure & Dynamics, 2023

Differences in CD80 and CD86 transendocytosis reveal CD86 as a key target for CTLA-4 immune regulation.

Kennedy A et al.

Nature Immunology, 2022

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

Mitsuiki N et al.

Immunological Reviews, 2019

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.

Schwab C et al.

The Journal of Allergy and Clinical Immunology, 2018

Immune deficiency and autoimmunity in patients with CTLA-4 (CD152) mutations.

Verma N et al.

Clinical and Experimental Immunology, 2017

Identifying functional defects in patients with immune dysregulation due to LRBA and CTLA-4 mutations.

Hou TZ et al.

Blood, 2017

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

Hematopoietic stem cell transplantation for CTLA4 deficiency.

Slatter MA et al.

The Journal of Allergy and Clinical Immunology, 2016

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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."