Varaico: Literature-Extracted Genetic Variants

Gene:XIAP
Variant:p.L207P
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XIAP

NM_001167.4:p.L207P

Associated Papers

Nucleotide-Binding Oligomerization Domain 2 in Signaling, Immunity, and Mycobacterial Infection.

Wang Y et al.

Immunity, Inflammation and Disease, 2025

Understanding the molecular mechanism of pathogenic variants of BIR2 domain in XIAP-deficient inflammatory bowel disease.

Lee J et al.

Scientific Reports, 2024

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations

Molecular modeling in the age of clinical genomics, the enterprise of the next generation.

Prokop JW et al.

Journal of Molecular Modeling, 2017

Regulation of XIAP Turnover Reveals a Role for USP11 in Promotion of Tumorigenesis.

Zhou Z et al.

Ebiomedicine, 2017

A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency.

Ammann S et al.

Clinical and Experimental Immunology, 2014

X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis.

Speckmann C et al.

Clinical Immunology (orlando, Fla.), 2013

Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling.

Damgaard RB et al.

Embo Molecular Medicine, 2013

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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."