SMARCA4 gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

SMARCA4 (SWI/SNF related, matrix associated, actin ...)

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

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SMARCA4 gene homepage

General information
Gene symbol	SMARCA4
Gene name	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Chromosome	19
Chromosomal band	p13.2
Imprinted	Unknown
Genomic reference	NG_011556.2
Transcript reference	NM_001128844.1, NM_001128845.1, NM_001128846.1, NM_001128847.1, NM_001128848.1, NM_001128849.1, NM_003072.3
Associated with diseases	OVCA
Citation reference(s)	-
Curators (1)	Despoina Kalfakakou
Total number of public variants reported	4
Unique public DNA variants reported	1
Individuals with public variants	6
Hidden variants	0
Download all this gene's data	Download all data
Date created	September 17, 2020
Date last updated	September 24, 2020
Version	SMARCA4:200924

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	11100
Entrez Gene	6597
PubMed articles	SMARCA4
OMIM - Gene	603254
OMIM - Diseases	OVCA (Ovarian Cancer)

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
00000245	19	transcript variant 1	NM_001128849.1	NP_001122321.1	4
00000246	19	transcript variant 2	NM_001128844.1	NP_001122316.1	4
00000247	19	transcript variant 3	NM_003072.3	NP_003063.2	4
00000248	19	transcript variant 4	NM_001128845.1	NP_001122317.1	4
00000249	19	transcript variant 5	NM_001128846.1	NP_001122318.1	4
00000250	19	transcript variant 6	NM_001128847.1	NP_001122319.1	4
00000251	19	transcript variant 7	NM_001128848.1	NP_001122320.1	4

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