LOVD STK11 homepage

General information
Gene name serine/threonine kinase 11
Gene symbol STK11
Chromosome Location 19p13.3
Database location MingQi_Lab
Curator Ming Qi, PhD, FACMG and Peikuan Cong
Database reference for citations Pan M et al, 2011 Zhang T et al, 2010
PubMed references View all (unique) PubMed references in the STK11 database
Date of creation May 04, 2011
Last update May 24, 2013
Version STK11 130524
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_007460.1
Transcript refseq ID NM_000455.4
Total number of unique DNA variants reported 333
Total number of individuals with variant(s) 94
Total number of variants reported 538
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NOTE This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
Also known as: PJS; LKB1; hLKB1

Graphical displays and utilities
Summary tables Summary of all sequence variants in the STK11 database, sorted by type of variant (with graphical displays and statistics)
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

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the STK11 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the STK11 database
Variants with no known pathogenicity Listing of all STK11 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
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
Homepage http://www.genomed.org/lovd2/home.php?select_db=STK11
HGNC 11389
Entrez Gene 6794
OMIM - Gene 602216
OMIM - Disease #1 Peutz-Jeghers syndrome (PJS)
OMIM - Disease #2 testicular germ cell tumor (TGCT)
UniProtKB (SwissProt/TrEMBL) Q15831
GeneCards STK11
GeneTests STK11

Copyright & disclaimer
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