The CREBBP gene homepage

General information
Gene symbol CREBBP
Gene name CREB binding protein
Chromosome 16
Chromosomal band p13.3
Imprinted Unknown
Genomic reference NC_000016.9
Transcript reference NM_004380.2
Exon/intron information NM_004380.2 exon/intron table
Associated with diseases ID, MKHK, MKHK1, RSTS, RSTS1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 470
Unique public DNA variants reported 377
Individuals with public variants 321
Hidden variants 33
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 June 21, 2007
Date last updated August 12, 2022
Version CREBBP:220812

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_004380.2.
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
HGNC 2348
Entrez Gene 1387
PubMed articles CREBBP
OMIM - Gene 600140
OMIM - Diseases MKHK1 (Menke-Hennekam syndrome, type 1 (MKHK-1))
RSTS1 (Rubinstein-Taybi syndrome, type 1 (RSTS-1))
GeneCards CREBBP
GeneTests CREBBP
Orphanet CREBBP

Active transcripts




NCBI ID     

NCBI Protein ID     

00001113 16 transcript variant 1 NM_004380.2 NP_004371.2 470

Copyright & disclaimer
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