LOVD VPS33B homepage

General information
Gene name vacuolar protein sorting 33 homolog B (yeast)
Gene symbol VPS33B
Chromosome Location 15q26.1
Database location grenada.lumc.nl
Curator Paul Gissen
PubMed references View all (unique) PubMed references in the VPS33B database
Date of creation July 12, 2011
Last update December 08, 2012
Version VPS33B121208
Add sequence variant Submit a sequence variant
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_012162.1
Transcript refseq ID NM_018668.3
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 228
Total number of individuals with variant(s) 243
Total number of variants reported 299
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the VPS33B 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

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the VPS33B database, without patient data
Complete sequence variant listing Listing of all sequence variants in the VPS33B database
Variants with no known pathogenicity Listing of all VPS33B 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
HGNC 12712
Entrez Gene 26276
OMIM - Gene 608552
UniProtKB (SwissProt/TrEMBL) Q9H267
HGMD VPS33B
GeneCards VPS33B
GeneTests VPS33B
External link Orphanet