Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.G227V
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CD40LG

NM_000074.3:p.G227V

Associated Papers

Integrin Binding to the Trimeric Interface of CD40L Plays a Critical Role in CD40/CD40L Signaling.

Takada YK et al.

Journal of Immunology (baltimore, Md. : 1950), 2019

Hyper IgM Syndrome: a Report from the USIDNET Registry.

Leven EA et al.

Journal of Clinical Immunology, 2016

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

Immunoglobulin class switch recombination deficiency type 1 or CD40 ligand deficiency: from bedside to bench and back again.

Hirbod-Mobarakeh A et al.

Expert Review of Clinical Immunology, 2014

Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations.

Aghamohammadi A et al.

Journal of Clinical Immunology, 2009

Molecular characterization of patients with X-linked Hyper-IgM syndrome: description of two novel CD40L mutations.

Rangel-Santos A et al.

Scandinavian Journal of Immunology, 2009

The structural basis of hyper IgM deficiency - CD40L mutations.

Thusberg J et al.

Protein Engineering, Design & Selection : Peds, 2007

CD154 variants associated with hyper-IgM syndrome can form oligomers and trigger CD40-mediated signals.

Garber E et al.

The Journal of Biological Chemistry, 1999

CD40 ligand mutants responsible for X-linked hyper-IgM syndrome associate with wild type CD40 ligand.

Seyama K et al.

The Journal of Biological Chemistry, 1999

Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome.

Seyama K et al.

Blood, 1998

Identification of residues on CD40 and its ligand which are critical for the receptor-ligand interaction.

Bajorath J et al.

Biochemistry, 1995

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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."