The PURA gene homepage

General information
Gene symbol PURA
Gene name purine-rich element binding protein A
Chromosome 5
Chromosomal band q31
Imprinted Unknown
Genomic reference NG_041813.1
Transcript reference NM_005859.4
Exon/intron information NM_005859.4 exon/intron table
Associated with diseases NEDRIHF
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 62
Unique public DNA variants reported 61
Individuals with public variants 41
Hidden variants 9
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 19, 2024
Version PURA:240419

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_005859.4.
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/PURA
HGNC 9701
Entrez Gene 5813
PubMed articles PURA
OMIM - Gene 600473
OMIM - Diseases NEDRIHF (MRD31)
HGMD PURA
GeneCards PURA
GeneTests PURA
Orphanet PURA


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00017191 5 purine-rich element binding protein A NM_005859.4 NP_005850.1 62


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