Varaico: Literature-Extracted Genetic Variants

Gene:SPPL2A
Variant:p.N126D
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SPPL2A

NM_032802.4:p.N126D

Associated Papers

Rare STAT1 variants in Moroccan tuberculosis patients: insights into host genetic susceptibility.

Zaidi S et al.

Clinical and Experimental Immunology, 2026

Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.

Kuligina ES et al.

Cancers, 2025

41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4b.xlsx › All_candidate_mutations

Tight junction protein cingulin variant is associated with cancer susceptibility by overexpressed IQGAP1 and Rac1-dependent epithelial-mesenchymal transition.

Huang YT et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2024

38424547 (PubMed )
Supplement: 13046_2024_2987_MOESM5_ESM.xlsx › Table_S4

Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency.

Kong XF et al.

Nature Immunology, 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."