Varaico: Literature-Extracted Genetic Variants

Gene:C5
Variant:p.K372R
Back to variants list

C5

NM_001735.3:p.K372R

Associated Papers

Novel Mutations Causing C5 Deficiency in Three North-African Families.

Colobran R et al.

Journal of Clinical Immunology, 2016

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

Primary complement C5 deficiencies - molecular characterization and clinical review of two families.

Schejbel L et al.

Immunobiology, 2013

Linking C5 deficiency to an exonic splicing enhancer mutation.

Pfarr N et al.

Journal of Immunology (baltimore, Md. : 1950), 2005

[Hereditary deficiency of complement in humans and animals].

Pozsgi N

Microbiologia, Parazitologia, Epidemiologia, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."