Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.S150F
Back to variants list

SERPING1

NM_000062.3:p.S150F

Associated Papers

Multiplex, multimodal mapping of variant effects in secreted proteins.

Popp NA et al.

Biorxiv : the Preprint Server for Biology, 2025

Clinical Evaluation of Pediatric Patients with Hereditary Angioedema.

Kırmızıtaş Aydoğdu A et al.

The Tohoku Journal of Experimental Medicine, 2024

SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE.

Drouet C et al.

Frontiers in Allergy, 2022

Clinical and genetic features of hereditary angioedema with and without C1-inhibitor (C1-INH) deficiency in Japan.

Hashimura C et al.

Allergy, 2021

Evidence for a dominant-negative effect of a missense mutation in the SERPING1 gene responsible for hereditary angioedema type I.

Yasuno S et al.

The Journal of Dermatology, 2021

Hereditary angioedema nationwide study in Slovenia reveals four novel mutations in SERPING1 gene.

Rijavec M et al.

Plos One, 2013

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."