The ATP8B1 gene homepage

General information
Gene symbol ATP8B1
Gene name ATPase, aminophospholipid transporter, class I, type 8B, member 1
Chromosome 18
Chromosomal band q21
Imprinted Unknown
Genomic reference NG_007148.2
Transcript reference NM_005603.4
Exon/intron information NM_005603.4 exon/intron table
Associated with diseases BRIC-1, ICP-1, PFIC, PFIC-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 61
Unique public DNA variants reported 50
Individuals with public variants 75
Hidden variants 4
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated September 17, 2021
Version ATP8B1:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_005603.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 3706
Entrez Gene 5205
PubMed articles ATP8B1
OMIM - Gene 602397
OMIM - Diseases BRIC-1 (cholestasis, intrahepatic, recurrent, benign, type 1 (BRIC-1))
ICP-1 (cholestasis, intrahepatic, of pregnancy, type 1 (ICP-1))
PFIC-1 (cholestasis, intrahepatic, familial, progressive, type 1 (PFIC-1))
HGMD ATP8B1
GeneCards ATP8B1
GeneTests ATP8B1
Orphanet ATP8B1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025281 18 ATPase, aminophospholipid transporter, class I, type 8B, member 1 NM_005603.4 NP_005594.1 61


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