LOVD STX11 homepage

General information
Gene name syntaxin 11
Gene symbol STX11
Chromosome Location 6q24.1
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the STX11 database
Date of creation April 19, 2010
Last update April 23, 2010
Version STX11 100423
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_007613.1
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 8
Total number of individuals with variant(s) 2
Total number of variants reported 8
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the STX11 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

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the STX11 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the STX11 database
Variants with no known pathogenicity Listing of all STX11 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

Links to other resources
External link STX11base: Mutation registry for Familial haemophagocytic lymphohistiocytosis 4 (FHL4) Mauno Vihinen, Univ. of Tampere, Tampere, Finland
HGNC 11429
Entrez Gene 8676
OMIM - Gene 605014
UniProtKB (SwissProt/TrEMBL) O75558
HGMD STX11
GeneCards STX11
GeneTests STX11