The STAT1 gene homepage

General information
Gene symbol STAT1
Gene name signal transducer and activator of transcription 1, 91kDa
Chromosome 2
Chromosomal band q32.2-q32.3
Imprinted Unknown
Genomic reference LRG_111
Transcript reference NM_007315.3
Exon/intron information NM_007315.3 exon/intron table
Associated with diseases IMD31A, IMD31B, IMD31C
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Mauno Vihinen
Total number of public variants reported 192
Unique public DNA variants reported 107
Individuals with public variants 198
Hidden variants 4
Download all this gene's data Download all data
Notes We gratefully acknowledge the efforts of Esther van de Vosse, curating this database until 2020.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated November 27, 2023
Version STAT1:231127

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_007315.3.
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/STAT1
External URL STAT1base
HGNC 11362
Entrez Gene 6772
PubMed articles STAT1
OMIM - Gene 600555
OMIM - Diseases IMD31A (immunodeficiency, type 31A, mycobacteriosis, autosomal dominant (IMD-31A))
IMD31B (immunodeficiency, type 31B, mycobacterial and viral infections, autosomal recessive (IMD-31B))
IMD31C (CANDF7)
HGMD STAT1
GeneCards STAT1
GeneTests STAT1
Orphanet STAT1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00020436 2 transcript variant alpha NM_007315.3 NP_009330.1 192


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2010-2024. 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.

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