The CEP57 gene homepage

General information
Gene symbol CEP57
Gene name centrosomal protein 57kDa
Chromosome 11
Chromosomal band q21
Imprinted Unknown
Genomic reference NG_029829.1
Transcript reference NM_014679.4
Exon/intron information NM_014679.4 exon/intron table
Associated with diseases MVA2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Sandra Hanks and Katie Snape
Total number of public variants reported 34
Unique public DNA variants reported 31
Individuals with public variants 7
Hidden variants 5
Download all this gene's data Download all data
Notes 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 June 27, 2011
Date last updated August 06, 2020
Version CEP57:200806

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_014679.4.
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
HGNC 30794
Entrez Gene 9702
PubMed articles CEP57
OMIM - Gene 607951
OMIM - Diseases MVA2 (mosaic variegated aneuploidy syndrome, type 2 (MVA2))
GeneCards CEP57
GeneTests CEP57
Orphanet CEP57

Active transcripts




NCBI ID     

NCBI Protein ID     

00004981 11 transcript variant 1 NM_014679.4 NP_055494.2 34

Copyright & disclaimer
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