LOVD JAK3 homepage

General information
Gene name Janus kinase 3
Gene symbol JAK3
Chromosome Location 19p13-p12
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the JAK3 database
Date of creation April 30, 2014
Last update April 30, 2014
Version JAK3 140430
Add sequence variant Submit a sequence variant
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Reference sequence file Genomic reference sequence for describing sequence variants
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 0
Total number of individuals with variant(s) 0
Total number of variants reported 0
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the JAK3 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
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 6193
Entrez Gene 3718
OMIM - Gene 600173
UniProtKB (SwissProt/TrEMBL) P52333