LOVD ATP8B1 homepage

General information
Gene name ATPase, class I, type 8B, member 1
Gene symbol ATP8B1
Chromosome Location 18q21
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the ATP8B1 database
Date of creation April 19, 2010
Last update April 23, 2010
Version ATP8B1 100423
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_007148.2
Transcript refseq ID NM_005603.3
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 87
Total number of individuals with variant(s) 2
Total number of variants reported 89
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the ATP8B1 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 ATP8B1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the ATP8B1 database
Variants with no known pathogenicity Listing of all ATP8B1 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 3706
Entrez Gene 5205
OMIM - Gene 602397
UniProtKB (SwissProt/TrEMBL) O43520
GeneCards ATP8B1
GeneTests ATP8B1