The DDB1 gene homepage

General information
Gene symbol DDB1
Gene name damage-specific DNA binding protein 1, 127kDa
Chromosome 11
Chromosomal band q12-q13
Imprinted Unknown
Genomic reference NG_032697.2
Transcript reference NM_001923.4
Exon/intron information NM_001923.4 exon/intron table
Associated with diseases NDD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 17
Unique public DNA variants reported 14
Individuals with public variants 10
Hidden variants -
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated December 04, 2023
Version DDB1:231204

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_001923.4.
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/DDB1
HGNC 2717
Entrez Gene 1642
PubMed articles DDB1
OMIM - Gene 600045
HGMD DDB1
GeneCards DDB1
GeneTests DDB1
Orphanet DDB1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00006193 11 damage-specific DNA binding protein 1, 127kDa NM_001923.4 NP_001914.3 17


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