Varaico: Literature-Extracted Genetic Variants

Gene:MAP3K14
Variant:p.P565R
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MAP3K14

NM_003954.5:p.P565R

Associated Papers

Long-term outcome of bone marrow transplantation in NIK deficiency: non-redundant role of non-canonical NF-κB signaling in thymic reconstitution and secondary lymphoid organ development.

Köstel Bal S et al.

Frontiers in Immunology, 2025

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.

Le Voyer T et al.

Nature, 2023

Immune defects caused by mutations in the ubiquitin system.

Etzioni A et al.

The Journal of Allergy and Clinical Immunology, 2017

Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency.

Schlechter N et al.

Frontiers in Immunology, 2017

Expanding the Interactome of the Noncanonical NF-κB Signaling Pathway.

Willmann KL et al.

Journal of Proteome Research, 2016

Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity.

Willmann KL et al.

Nature Communications, 2014

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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."