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 ?, IMD-31A, IMD-31B, IMD-31C
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Esther van de Vosse, Gerard C.P. Schaafsma and Mauno Vihinen
Total number of public variants reported 169
Unique public DNA variants reported 91
Individuals with public variants 194
Hidden variants 4
Notes 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 February 08, 2021
Version STAT1:210208

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
External URL STAT1base: Mutation registry for STAT1 deficiency
HGNC 11362
Entrez Gene 6772
PubMed articles STAT1
OMIM - Gene 600555
OMIM - Diseases IMD-31A (immunodeficiency, type 31A, mycobacteriosis, autosomal dominant (IMD-31A))
IMD-31B (immunodeficiency, type 31B, mycobacterial and viral infections, autosomal recessive (IMD-31B))
GeneCards STAT1
GeneTests STAT1
Orphanet STAT1

Active transcripts




NCBI ID     

NCBI Protein ID     

00020436 2 transcript variant alpha NM_007315.3 NP_009330.1 169

Copyright & disclaimer
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