Varaico: Literature-Extracted Genetic Variants

Gene:ECSIT
Variant:p.V140A
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ECSIT

NM_016581.5:p.V140A

Associated Papers

Genomic features reveal potential benefit of adding anti-PD-1 immunotherapy to treat non-upper aerodigestive tract natural killer/T-cell lymphoma.

Chen Z et al.

Leukemia, 2024

No association between ECSIT germline mutations and hemophagocytic lymphohistiocytosis in natural killer/T-cell lymphoma.

Ong SY et al.

Haematologica, 2021

Mutational profile and EBV strains of extranodal NK/T-cell lymphoma, nasal type in Latin America.

Montes-Mojarro IA et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

Recurrent GNAQ mutation encoding T96S in natural killer/T cell lymphoma.

Li Z et al.

Nature Communications, 2019

Molecular pathogenic pathways in extranodal NK/T cell lymphoma.

de Mel S et al.

Journal of Hematology & Oncology, 2019

Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.

Ling C et al.

Bmc Medical Genetics, 2019

30642278 (PubMed )
Supplement: 12881_2018_725_MOESM2_ESM.xlsx › Sheet1

Advances in multiple omics of natural-killer/T cell lymphoma.

Xiong J et al.

Journal of Hematology & Oncology, 2018

An Essential Role for ECSIT in Mitochondrial Complex I Assembly and Mitophagy in Macrophages.

Carneiro FRG et al.

Cell Reports, 2018

Recurrent ECSIT mutation encoding V140A triggers hyperinflammation and promotes hemophagocytic syndrome in extranodal NK/T cell lymphoma.

Wen H et al.

Nature Medicine, 2018

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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."