SERPINA1 gene homepage

General information
Gene symbol SERPINA1
Gene name serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
Chromosome 14
Chromosomal band q32.1
Imprinted Unknown
Genomic reference NG_008290.1
Transcript reference NM_001127701.1
Exon/intron information NM_001127701.1 exon/intron table
Associated with diseases AATD, COPD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) George Patrinos
Total number of public variants reported 261
Unique public DNA variants reported 75
Individuals with public variants 179
Hidden variants 8
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated September 14, 2018
Version SERPINA1:180914

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_001127701.1.
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
External URL Orphanet
HGNC 8941
Entrez Gene 5265
PubMed articles SERPINA1
OMIM - Gene 107400
OMIM - Diseases AATD (alpha-1-antitrypsin deficiency (AATD))
COPD (pulmonary disease, obstructive, chronic, susceptibility to (COPD))
HGMD SERPINA1
GeneCards SERPINA1
GeneTests SERPINA1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000182 14 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1, transcript variant 5 NM_001127701.1 NP_001121173.1 261


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