SMAD4 gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

SMAD4 (SMAD family member 4)

LOVD v.3.0 Build 23 [ Current LOVD status ]
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	Curator: Despoina Kalfakakou

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SMAD4 gene homepage

General information
Gene symbol	SMAD4
Gene name	SMAD family member 4
Chromosome	18
Chromosomal band	q21.2
Imprinted	Unknown
Genomic reference	LRG_318
Transcript reference	NM_005359.5
Associated with diseases	JPHT, JPS, MYHRS
Citation reference(s)	-
Curators (1)	Despoina Kalfakakou
Total number of public variants reported	119
Unique public DNA variants reported	42
Individuals with public variants	137
Hidden variants	0
Date created	May 20, 2020
Date last updated	September 17, 2020
Version	SMAD4:200917

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	6770
Entrez Gene	4089
PubMed articles	SMAD4
OMIM - Gene	600993
OMIM - Diseases	JPHT (Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome) JPS (Juvenile Polyposis Syndrome) MYHRS (Myhre syndrome)

Active transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000205	18	SMAD family member 4	NM_005359.5	NP_005350.1	119

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