The SEC24D gene homepage

Osteogenesis Imperfecta Variant Database
General information
Gene symbol SEC24D
Gene name SEC24 homolog D, COPII coat complex component
Chromosome 4
Chromosomal band q26
Imprinted Unknown
Genomic reference NG_042032.1
Transcript reference NM_014822.2
Exon/intron information NM_014822.2 exon/intron table
Associated with diseases CLCRP, CLCRP2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Raymond Dalgleish, Gerard Pals, and Dimitra Micha
Total number of public variants reported 51
Unique public DNA variants reported 42
Individuals with public variants 12
Hidden variants 3
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.
This database is supported by Osteogenesis Imperfecta Federation Europe (OIFE)
Date created May 03, 2013
Date last updated April 16, 2023
Version SEC24D:230416

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_014822.2.
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
External URL Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases
Osteogenesis Imperfecta Federation Europe (OIFE)
HGNC 10706
Entrez Gene 9871
PubMed articles SEC24D
OMIM - Gene 607186
OMIM - Diseases CLCRP2 (Cole-Carpenter syndrome, type 2 (CLCRP2))
GeneCards SEC24D
GeneTests SEC24D
Orphanet SEC24D

Active transcripts




NCBI ID     

NCBI Protein ID     

00018613 4 SEC24 family, member D (S. cerevisiae) NM_014822.2 NP_055637.2 51

Copyright & disclaimer
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