Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.Y127C
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CTLA4

NM_005214.5:p.Y127C

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

A New Variant in CTLA4 Highlights the Heterogeneous Phenotype of CTLA4 Haploinsufficiency.

Sormani J et al.

Journal of Clinical Immunology, 2025

Rituximab and antimetabolite treatment of granulomatous and lymphocytic interstitial lung disease in common variable immunodeficiency.

Verbsky JW et al.

The Journal of Allergy and Clinical Immunology, 2021

CTLA4 Message Reflects Pathway Disruption in Monogenic Disorders and Under Therapeutic Blockade.

Garcia-Perez JE et al.

Frontiers in Immunology, 2019

Fatal CTLA-4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation.

Moraes-Fontes MF et al.

Clinical Case Reports, 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."