Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.C53S
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SERPINC1

NM_000488.4:p.C53S

Associated Papers

Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency.

Wang HL et al.

Thrombosis Journal, 2023

Molecular bases of antithrombin deficiency: twenty-two novel mutations in the antithrombin gene.

Picard V et al.

Human Mutation, 2006

Partial glycosylation of antithrombin III asparagine-135 is caused by the serine in the third position of its N-glycosylation consensus sequence and is responsible for production of the beta-antithrombin III isoform with enhanced heparin affinity.

Picard V et al.

Biochemistry, 1995

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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."