The AAGAB gene homepage

General information
Gene symbol AAGAB
Gene name alpha- and gamma-adaptin binding protein
Chromosome 15
Chromosomal band q22.33-q23
Imprinted Unknown
Genomic reference NG_033007.1
Transcript reference NM_001271885.1, NM_001271886.1, NM_024666.4
Associated with diseases PPKP-1A
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 68
Unique public DNA variants reported 10
Individuals with public variants 32
Hidden variants 13
Date created November 30, -0001
Date last updated September 28, 2016
Version AAGAB:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:25662
Entrez Gene 79719
PubMed articles AAGAB
OMIM - Gene 614888
OMIM - Diseases PPKP-1A (keratoderma, palmoplantar, punctate, type IA (PPKP-1A))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024723 15 transcript variant 1 NM_024666.4 NP_078942.3 68
00049034 15 transcript variant 3 NM_001271886.1 NP_001258815.1 68
00049035 15 transcript variant 2 NM_001271885.1 NP_001258814.1 68