SERPING1 gene homepage

General information
Gene symbol SERPING1
Gene name serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
Chromosome 11
Chromosomal band q12.1
Imprinted Unknown
Genomic reference LRG_105
Transcript reference NM_000062.2
Exon/intron information NM_000062.2 exon/intron table
Associated with diseases C4D, HAE-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Christian Drouet
Total number of public variants reported 818
Unique public DNA variants reported 779
Individuals with public variants 2186
Hidden variants 1
Download all this gene's data Download all data
Notes alias C1NH.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated March 23, 2020
Version SERPING1:200323

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000062.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/SERPING1
HGNC 1228
Entrez Gene 710
PubMed articles SERPING1
OMIM - Gene 606860
OMIM - Diseases C4D (complement component 4, partial deficiency of (C4D))
HAE-1 (angioedema, hereditary, type 1 (HAE-1))
HGMD SERPING1
GeneCards SERPING1
GeneTests SERPING1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00018730 11 transcript variant 1 NM_000062.2 NP_000053.2 818


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2020. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.