The SMAD3 gene homepage

This gene is part of the Globin Gene Server databases.
General information
Gene symbol SMAD3
Gene name SMAD family member 3
Chromosome 15
Chromosomal band q21-q22
Imprinted Unknown
Genomic reference NG_011990.1
Transcript reference NM_005902.3
Exon/intron information NM_005902.3 exon/intron table
Associated with diseases LDS, LDS3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 216
Unique public DNA variants reported 145
Individuals with public variants 218
Hidden variants 8
Download all this gene's data Download all data
Notes This gene is part of the Globin Gene Server databases.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created February 18, 2009
Date last updated September 30, 2022
Version SMAD3:220930

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_005902.3.
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 Globin Gene Server databases
HGNC 6769
Entrez Gene 4088
PubMed articles SMAD3
OMIM - Gene 603109
OMIM - Diseases LDS3 (Loeys-Dietz syndrome, type 3 (LDS-3))
GeneCards SMAD3
GeneTests SMAD3
Orphanet SMAD3

Active transcripts




NCBI ID     

NCBI Protein ID     

00019406 15 transcript variant 1 NM_005902.3 NP_005893.1 216

Copyright & disclaimer
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