Varaico: Literature-Extracted Genetic Variants

Gene:IKBKG
Variant:p.L221P
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IKBKG

NM_001099856.6:p.L221P

Associated Papers

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S13.xls › human_pat_mouse_phe_orthovar_14

Primary immunodeficiency-related genes in neonatal intensive care unit patients with various genetic immune abnormalities: a multicentre study in China.

Zhu T et al.

Clinical & Translational Immunology, 2021

Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti.

Bal E et al.

The Journal of Allergy and Clinical Immunology, 2017

Defective nuclear IKKα function in patients with ectodermal dysplasia with immune deficiency.

Temmerman ST et al.

The Journal of Clinical Investigation, 2012

Systems analysis identifies an essential role for SHANK-associated RH domain-interacting protein (SHARPIN) in macrophage Toll-like receptor 2 (TLR2) responses.

Zak DE et al.

Proceedings of the National Academy of Sciences of the United States of America, 2011

A mutation of Ikbkg causes immune deficiency without impairing degradation of IkappaB alpha.

Siggs OM et al.

Proceedings of the National Academy of Sciences of the United States of America, 2010

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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."