Varaico: Literature-Extracted Genetic Variants

Gene:FASLG
Variant:p.A247E
Back to variants list

FASLG

NM_000639.3:p.A247E

Associated Papers

Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.

Segura-Tudela A et al.

Journal of Clinical Immunology, 2024

38363452 (PubMed )
Supplement: 10875_2024_1664_MOESM1_ESM.docx

Characterizing the regulatory Fas (CD95) epitope critical for agonist antibody targeting and CAR-T bystander function in ovarian cancer.

Mondal T et al.

Cell Death and Differentiation, 2023

The genetic landscape of the FAS pathway deficiencies.

Magerus A et al.

Biomedical Journal, 2021

Immunologic evaluation and genetic defects of apoptosis in patients with autoimmune lymphoproliferative syndrome (ALPS).

Casamayor-Polo L et al.

Critical Reviews in Clinical Laboratory Sciences, 2021

Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation.

Magerus-Chatinet A et al.

The Journal of Allergy and Clinical Immunology, 2013

Analysis of the CD95 ligand gene in 20 children with autoimmune lymphoproliferative syndrome (ALPS).

Pauly E et al.

Blood, 2006

A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome.

Del-Rey M et al.

Blood, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."