Varaico: Literature-Extracted Genetic Variants

Gene:FAS
Variant:p.G286E
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FAS

NM_000043.6:p.G286E

Associated Papers

Pharmacogenomics and mutation informatics: correlation of NAT2 mutations and isoniazid acetylation rate.

Verma S et al.

Drug Discovery Today, 2026

Sequence-structure based prediction of pathogenicity for amino acid substitutions in proteins associated with primary immunodeficiencies.

Porfireva ES et al.

Frontiers in Immunology, 2025

Severe autoimmune lymphoproliferative syndrome phenotype in a pediatric patient with a germline FAS gene variant.

Dreyzin A et al.

Pediatric Blood & Cancer, 2023

A unique phenotype of longitudinal extensive transverse myelitis in autoimmune lymphoproliferative syndrome.

Dekeyser C et al.

Journal of Neuroimmunology, 2022

Case report: Effectiveness of sirolimus in a de novo FAS mutation leading to autoimmune lymphoproliferative syndrome-FAS and elevated DNT/Treg ratio.

Gu H et al.

Frontiers in Pediatrics, 2022

Mutational Profile and Clonal Evolution of Relapsed/Refractory Diffuse Large B-Cell Lymphoma.

Lee B et al.

Frontiers in Oncology, 2021

33777778 (PubMed )
Supplement: DataSheet_1.xlsx › Supplementary_Data_Set_1

Targeted genomic analysis of cutaneous T cell lymphomas identifies a subset with aggressive clinicopathological features.

Argyropoulos KV et al.

Blood Cancer Journal, 2020

33168809 (PubMed )
Supplement: 41408_2020_380_MOESM3_ESM.xlsx › Sheet1

High-throughput sequencing of nodal marginal zone lymphomas identifies recurrent BRAF mutations.

Pillonel V et al.

Leukemia, 2018

29556019 (PubMed )
Supplement: 41375_2018_82_MOESM10_ESM.xlsx › .
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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."