LOVD SERPINA1 homepage

General information
Gene name AAT serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
Gene symbol SERPINA1
Chromosome Location 14q32.1
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the SERPINA1 database
Date of creation April 20, 2010
Last update May 06, 2010
Version SERPINA1 100506
Add sequence variant Submit a sequence variant
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NC_000014.8
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 91
Total number of individuals with variant(s) 2
Total number of variants reported 105
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the SERPINA1 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the SERPINA1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the SERPINA1 database
Variants with no known pathogenicity Listing of all SERPINA1 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
External link A1ATVar: A1-antitrypsin database
HGNC 8941
Entrez Gene 5265
OMIM - Gene 107400
UniProtKB (SwissProt/TrEMBL) Q86U18
HGMD SERPINA1
GeneCards SERPINA1
GeneTests SERPINA1