CEP57 gene homepage

General information
Gene symbol CEP57
Gene name centrosomal protein 57
Chromosome 11
Chromosomal band q21
Imprinted Unknown
Genomic reference LRG_526
Transcript reference NM_001243776.1, NM_001243777.1, NM_014679.4
Associated with diseases MVA2
Citation reference(s) -
Curators (1) Despoina Kalfakakou
Total number of public variants reported 123
Unique public DNA variants reported 45
Individuals with public variants 167
Hidden variants 0
Date created May 20, 2020
Date last updated June 05, 2020
Version CEP57:200605

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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 30794
Entrez Gene 9702
PubMed articles CEP57
OMIM - Gene 607951
OMIM - Diseases MVA2 (Mosaic variegated aneuploidy syndrome 2)

Active transcripts




NCBI ID     

NCBI Protein ID     

00000032 11 centrosomal protein 57kDa, transcript variant 1 NM_014679.4 NP_055494.2 123
00000033 11 centrosomal protein 57kDa, transcript variant 2 NM_001243776.1 NP_001230705.1 123
00000034 11 centrosomal protein 57kDa, transcript variant 3 NM_001243777.1 NP_001230706.1 123

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