Varaico: Literature-Extracted Genetic Variants

Gene:TNFAIP3
Variant:p.T129M
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TNFAIP3

NM_001270508.2:p.T129M

Associated Papers

Germline Sequencing of Familial and Sporadic Early-Onset Colorectal Cancer: A Novel Pattern of Genes.

Vande Perre P et al.

International Journal of Molecular Sciences, 2025

40429818 (PubMed )
Supplement: ijms-26-04672-s001.zip › ijms-3598274-supplementary.xlsx › Supporting_information_Table_S1

Genetic Mutations Associated With TNFAIP3 (A20) Haploinsufficiency and Their Impact on Inflammatory Diseases.

Bagyinszky E et al.

International Journal of Molecular Sciences, 2024

A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation.

El Khouri E et al.

Elife, 2023

TNFAIP3 mutation causing haploinsufficiency of A20 with a hemophagocytic lymphohistiocytosis phenotype: a report of two cases.

Aslani N et al.

Pediatric Rheumatology Online Journal, 2022

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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."