PNKP gene homepage

General information
Gene symbol PNKP
Gene name polynucleotide kinase 3'-phosphatase
Chromosome 19
Chromosomal band q13.3-q13.4
Imprinted Unknown
Genomic reference NG_027717.1
Transcript reference NM_007254.3
Exon/intron information NM_007254.3 exon/intron table
Associated with diseases AOA, AOA-4, ID, MCSZ
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 125
Unique public DNA variants reported 79
Individuals with public variants 52
Hidden variants 8
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 May 03, 2013
Date last updated April 01, 2020
Version PNKP:200401

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_007254.3.
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
HGNC 9154
Entrez Gene 11284
PubMed articles PNKP
OMIM - Gene 605610
OMIM - Diseases AOA-4 (ataxia-oculomotor apraxia, type 4 (AOA-4))
GeneCards PNKP
GeneTests PNKP

Active transcripts




NCBI ID     

NCBI Protein ID     

00016427 19 polynucleotide kinase 3'-phosphatase NM_007254.3 NP_009185.2 125

Copyright & disclaimer
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