POLE gene homepage

General information
Gene symbol POLE
Gene name polymerase (DNA directed), epsilon, catalytic subunit
Chromosome 12
Chromosomal band q24.3
Imprinted Unknown
Genomic reference LRG_789
Transcript reference NM_006231.2
Exon/intron information NM_006231.2 exon/intron table
Associated with diseases CRCS-12, Facial dysmorphism, immunodeficiency, livedo, and short stature
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Ian Tomlinson
Total number of public variants reported 208
Unique public DNA variants reported 134
Individuals with public variants 20
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created December 06, 2012
Date last updated April 30, 2019
Version POLE:190430

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_006231.2.
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
Homepage URL https://www.LOVD.nl/POLE
HGNC 9177
Entrez Gene 5426
PubMed articles POLE
OMIM - Gene 174762
OMIM - Diseases CRCS-12 (cancer, colorectal, susceptibility to, type 12 (CRCS-12))
Facial dysmorphism, immunodeficiency, livedo, and short stature
HGMD POLE
GeneCards POLE
GeneTests POLE


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001771 12 polymerase (DNA directed), epsilon NM_006231.2 NP_006222.2 208


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