LOVD ABCC6 homepage

General information
Gene name ABCC6 - ATP-binding cassette, sub-family C (CFTR/MRP), member 6
Gene symbol ABCC6
Chromosome Location 16p13.1
Database location ncbivariation
Curator Sharon Terry and Tim Hefferon
PubMed references View all (unique) PubMed references in the ABCC6 database
Date of creation June 13, 2008
Last update November 17, 2014
Version ABCC6 141117
Add sequence variant Submit a sequence variant
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Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NG_007558.2
Transcript refseq ID NM_001171.5
Total number of unique DNA variants reported 296
Total number of individuals with variant(s) 506
Total number of variants reported 688
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the ABCC6 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 ABCC6 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the ABCC6 database
Variants with no known pathogenicity Listing of all ABCC6 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the ABCC6 database in tab-delimited text format.

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
Entrez Gene 368
OMIM - Gene 603234
OMIM - Disease PXE
GeneTests ABCC6
External link #1 PXE International
External link #2 GeneReviews
External link #3 ABCC6 Homology Model of Human MRP6 Protein (3D)
External link #4 ABCC6 Membrane Topology Model (2D)
External link #5 NCBI MRP6 HomoloGene
External link #6 NG_007558.2 in sequence Viewer
External link #7 ABCC6 cDNA Reference Sequence
External link #8 ABCC6 in NCBI's Map Viewer

PXE International is grateful to the following individuals for their contributions toward the development of this ABCC6 database: Abbie Moore, Emilie Lamb, Rachel Koren, Kelly Harris, Nat Nash, Mary Peckiconis, Christine Vocke, Terry Mac Dermaid, Sharon Terry (PXE International, Washington, DC, USA); Tim Hefferon, Donna Maglott, Brandi Kattman, Dmitriy Beloslyudtsev, David Shao, Lisa Forman Neall, Jim Ostell (National Center for Biotechnology Information, National Institutes of Health, Bethesda, MD, USA); Orsolya Symmons, Krisztina Fülöp, László Barna, Tamás Arányi, András Váradi (Institute of Enzymology, RCNS, Hungarian Academy of Sciences, Budapest, Hungary).