Varaico: Literature-Extracted Genetic Variants

Gene:C3
Variant:p.V1658A
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C3

NM_000064.4:p.V1658A

Associated Papers

Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.

Geerlings MJ et al.

Clinical Genetics, 2018

29888403 (PubMed )
Supplement: CGE-94-330-s001.zip › Appendix_S1 › Table_S4.xlsx › C3

Regulator-dependent mechanisms of C3b processing by factor I allow differentiation of immune responses.

Xue X et al.

Nature Structural & Molecular Biology, 2017

Rare genetic variants in Shiga toxin-associated haemolytic uraemic syndrome: genetic analysis prior to transplantation is essential.

Dowen F et al.

Clinical Kidney Journal, 2017

Regulators of complement activity mediate inhibitory mechanisms through a common C3b-binding mode.

Forneris F et al.

The Embo Journal, 2016

27013439 (PubMed )
Supplement: EMBJ-35-1133-s001.pdf

Rare loss-of-function mutation in complement component C3 provides insight into molecular and pathophysiological determinants of complement activity.

Sfyroera G et al.

Journal of Immunology (baltimore, Md. : 1950), 2015

Atypical hemolytic uremic syndrome.

Kavanagh D et al.

Seminars in Nephrology, 2013

A novel C3 mutation causing increased formation of the C3 convertase in familial atypical hemolytic uremic syndrome.

Sartz L et al.

Journal of Immunology (baltimore, Md. : 1950), 2012

Familial atypical hemolytic uremic syndrome: a review of its genetic and clinical aspects.

Bu F et al.

Clinical & Developmental Immunology, 2012

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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."