Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.K143T
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CD40LG

NM_000074.3:p.K143T

Associated Papers

Mechanotransduction governs CD40 function and underlies X-linked hyper-IgM syndrome.

Choi HK et al.

Science Advances, 2024

CD40L Activates Platelet Integrin αIIbβ3 by Binding to the Allosteric Site (Site 2) in a KGD-Independent Manner and HIGM1 Mutations Are Clustered in the Integrin-Binding Sites of CD40L.

Takada YK et al.

Cells, 2023

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

The structural basis of hyper IgM deficiency - CD40L mutations.

Thusberg J et al.

Protein Engineering, Design & Selection : Peds, 2007

Soluble CD40L activates soluble and cell-surface integrin αvβ3, α5β1, and α4β1 by binding to the allosteric ligand-binding site (site 2).

Takada YK et al.

The Journal of Biological Chemistry, 0

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