Varaico: Literature-Extracted Genetic Variants

Gene:CFP
Variant:p.Y414D
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CFP

NM_001145252.3:p.Y414D

Associated Papers

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

Structural studies offer a framework for understanding the role of properdin in the alternative pathway and beyond.

Pedersen DV et al.

Immunological Reviews, 2023

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

Structural Basis for Properdin Oligomerization and Convertase Stimulation in the Human Complement System.

Pedersen DV et al.

Frontiers in Immunology, 2019

Insights Into Enhanced Complement Activation by Structures of Properdin and Its Complex With the C-Terminal Domain of C3b.

van den Bos RM et al.

Frontiers in Immunology, 2019

Compound heterozygous mutations in IL10RA combined with a complement factor properdin mutation in infantile-onset inflammatory bowel disease.

Jung ES et al.

European Journal of Gastroenterology & Hepatology, 2018

Functional and structural insight into properdin control of complement alternative pathway amplification.

Pedersen DV et al.

The Embo Journal, 2017

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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."