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Loeys-Dietz Syndrome Mutation Database

SMAD family member 2 (SMAD2)

LOVD v.3.0 Build 16 [ Current LOVD status ]
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Curators: Giada Tortora, Bart Loeys and Bart Loeys

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General information
Gene symbol	SMAD2
Gene name	SMAD family member 2
Chromosome	18
Chromosomal band	q21.1
Imprinted	Unknown
Genomic reference	NG_029946.1
Transcript reference	NM_005901.5
Associated with diseases	LDS
Citation reference(s)	-
Curators (3)	Giada Tortora, Bart Loeys and Bart Loeys
Total number of public variants reported	9
Unique public DNA variants reported	7
Individuals with public variants	9
Hidden variants	0
Date created	July 18, 2017
Date last updated	November 07, 2017
Version	SMAD2:171107

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	6768
Entrez Gene	4087
PubMed articles	SMAD2
OMIM - Gene	601366

Active transcripts

Legend

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000012	18	transcript variant 1	NM_005901.5	NP_005892.1	9

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