The PUF60 gene homepage

General information
Gene symbol PUF60
Gene name poly-U binding splicing factor 60KDa
Chromosome 8
Chromosomal band q24.3
Imprinted Unknown
Genomic reference NC_000008.10
Transcript reference NM_078480.2
Exon/intron information NM_078480.2 exon/intron table
Associated with diseases VRJS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 53
Unique public DNA variants reported 49
Individuals with public variants 17
Hidden variants 1
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 PUF60:240419

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_078480.2.
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 http://www.LOVD.nl/PUF60
HGNC 17042
Entrez Gene 22827
PubMed articles PUF60
OMIM - Gene 604819
OMIM - Diseases VRJS (Verheij syndrome (chromosome deletion syndrome 8q24.3))
HGMD PUF60
GeneCards PUF60
GeneTests PUF60
Orphanet PUF60


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024149 8 transcript variant 1 NM_078480.2 NP_510965.1 53


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