The AATK gene homepage

General information
Gene symbol AATK
Gene name apoptosis-associated tyrosine kinase
Chromosome 17
Chromosomal band q25.3
Imprinted Unknown
Genomic reference NG_029981.1
Transcript reference NM_001080395.2, NM_004920.2, XM_005257847.1, XM_005257848.1, XM_005257849.1, XM_005257850.1, XM_005257851.1, XM_005257852.1, XM_005257853.1, XM_005257854.1, XM_005257855.1, XM_005257856.1, XM_005257857.1
Associated with diseases -
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 285
Unique public DNA variants reported 27
Individuals with public variants 35
Hidden variants 190
Date created October 28, 2013
Date last updated September 28, 2016
Version AATK: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:21
Entrez Gene 9625
PubMed articles AATK
OMIM - Gene 605276
HGMD AATK
GeneCards AATK
GeneTests AATK


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000008 17 transcript variant 2 NM_004920.2 NP_004911.2 285
00015451 17 Manually created transcript. (removed from reference sequence) NM_001080395.2 - 239
00038998 17 transcript variant X5 XM_005257851.1 XP_005257908.1 -
00038999 17 transcript variant X9 XM_005257855.1 XP_005257912.1 -
00039000 17 transcript variant X1 XM_005257847.1 XP_005257904.1 -
00039001 17 transcript variant X7 XM_005257853.1 XP_005257910.1 -
00039002 17 transcript variant X4 XM_005257850.1 XP_005257907.1 -
00039003 17 transcript variant X8 XM_005257854.1 XP_005257911.1 -
00039004 17 transcript variant X2 XM_005257848.1 XP_005257905.1 -
00039005 17 transcript variant X6 XM_005257852.1 XP_005257909.1 -
00039006 17 transcript variant X3 XM_005257849.1 XP_005257906.1 -
00039007 17 transcript variant X11 XM_005257857.1 XP_005257914.1 -
00039008 17 transcript variant X10 XM_005257856.1 XP_005257913.1 -


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