Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.I462S
Back to variants list

SERPING1

NM_000062.3:p.I462S

Associated Papers

The Crystal Structure of the Michaelis-Menten Complex of C1 Esterase Inhibitor and C1s Reveals Novel Insights into Complement Regulation.

Garrigues RJ et al.

Journal of Immunology (baltimore, Md. : 1950), 2024

Recessive SERPING1 Variant Leads to Kinin-Kallikrein System Control Failure in a Consanguineous Brazilian Family with Hereditary Angioedema.

Maia LSM et al.

Journal of Clinical Medicine, 2023

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

Drouet C et al.

Frontiers in Allergy, 2022

SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.

Ponard D et al.

Human Mutation, 2020

First case of homozygous C1 inhibitor deficiency.

Blanch A et al.

The Journal of Allergy and Clinical Immunology, 2006

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."