The POLA1 gene homepage

General information
Gene symbol POLA1
Gene name polymerase (DNA directed), alpha 1, catalytic subunit
Chromosome X
Chromosomal band p22.1-p21.3
Imprinted Unknown
Genomic reference NG_016798.1
Transcript reference NM_016937.3
Exon/intron information NM_016937.3 exon/intron table
Associated with diseases NSX, PDR, VEODS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 52
Unique public DNA variants reported 44
Individuals with public variants 28
Hidden variants 13
Notes This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated November 29, 2021
Version POLA1:211129

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_016937.3.
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
HGNC 9173
Entrez Gene 5422
PubMed articles POLA1
OMIM - Gene 312040
OMIM - Diseases NSX (N syndrome (NSX))
PDR (Pigmentary disorder, reticulate, with systemic manifestations, X-linked)
VEODS (Van Esch-O'Driscoll syndrome)
GeneCards POLA1
GeneTests POLA1
Orphanet POLA1

Active transcripts




NCBI ID     

NCBI Protein ID     

00000820 X polymerase (DNA directed), alpha 1, catalytic subunit NM_016937.3 NP_058633.2 52

Copyright & disclaimer
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