Varaico: Literature-Extracted Genetic Variants

Gene:CFP
Variant:p.D299N
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CFP

NM_001145252.3:p.D299N

Associated Papers

Genetic determinants of the complement and coagulation pathways in invasive meningococcal disease.

Bellos E et al.

The Journal of Allergy and Clinical Immunology, 2025

SIGMA leverages protein structural information to predict the pathogenicity of missense variants.

Zhao H et al.

Cell Reports Methods, 2024

38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Insights Into the Somatic Mutation Burden of Hepatoblastomas From Brazilian Patients.

Aguiar TFM et al.

Frontiers in Oncology, 2020

32432034 (PubMed )
Supplement: Table_6.XLSX › HB46

Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype.

Noris M et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2010

Screening of DNA-variants in the properdin gene (CFP) in age-related macular degeneration (AMD).

Seitsonen S et al.

Molecular Immunology, 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."