Varaico: Literature-Extracted Genetic Variants

Gene:CD40
Variant:p.P227A
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CD40

NM_001250.6:p.P227A

Associated Papers

Genetic variation in genes of inborn errors of immunity in children with unexplained encephalitis.

Malik D et al.

Genes and Immunity, 2022

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Famiglietti ML et al.

Database : the Journal of Biological Databases and Curation, 2019

30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common

Analysis of Genetic Variation in CD40 and CD40L: Relationship with mRNA Relative Expression and Soluble Proteins in Acute Coronary Syndrome.

Martínez-Fernández DE et al.

Journal of Immunology Research, 2019

Genetics of Lupus Nephritis: Clinical Implications.

Munroe ME et al.

Seminars in Nephrology, 2015

Association of SNPs of CD40 gene with multiple sclerosis in Russians.

Sokolova EA et al.

Plos One, 2013

Differential TRAF3 utilization by a variant human CD40 receptor with enhanced signaling.

Peters AL et al.

Journal of Immunology (baltimore, Md. : 1950), 2010

A novel polymorphism of the human CD40 receptor with enhanced function.

Peters AL et al.

Blood, 2008

Illuminating autoimmune regulators through controlled variation of the mouse genome sequence.

Vinuesa CG et al.

Immunity, 2004

Differential requirements for tumor necrosis factor receptor-associated factor family proteins in CD40-mediated induction of NF-kappaB and Jun N-terminal kinase activation.

Leo E et al.

The Journal of Biological Chemistry, 1999

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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."