LOVD UNC13D homepage

General information
Gene name unc-13 homolog D (C. elegans)
Gene symbol UNC13D
Chromosome Location 17q25.1
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the UNC13D database
Date of creation January 08, 2010
Last update November 06, 2013
Version UNC13D131106
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 NC_000017.10
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 39
Total number of individuals with variant(s) 2
Total number of variants reported 39
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the UNC13D 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 UNC13D database, without patient data
Complete sequence variant listing Listing of all sequence variants in the UNC13D database
Variants with no known pathogenicity Listing of all UNC13D 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 UNC13Dbase: Mutation registry for Familial hemophagocytic lymphohistiocytosis 3 Mauno Vihinen, Univ. of Tampere, Tampere, Finland
Entrez Gene 201294
OMIM - Gene 608898
UniProtKB (SwissProt/TrEMBL) Q70J99
HGMD UNC13D
GeneCards UNC13D
GeneTests UNC13D

For research use only. Husami et al. 2006-2010