BRCA2 gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

BRCA2 (BRCA2 DNA repair associated)

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

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BRCA2 gene homepage

General information
Gene symbol	BRCA2
Gene name	BRCA2 DNA repair associated
Chromosome	13
Chromosomal band	q13.1
Imprinted	Unknown
Genomic reference	LRG_293
Transcript reference	NM_000059.3
Associated with diseases	BrCa, BROVCA2, FANCD1, GLM3, MDB, PNCA2, PrCa, WT1
Citation reference(s)	-
Curators (1)	Despoina Kalfakakou
Total number of public variants reported	1117
Unique public DNA variants reported	295
Individuals with public variants	1087
Hidden variants	0
Date created	May 20, 2020
Date last updated	May 27, 2022
Version	BRCA2:220527

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	1101
Entrez Gene	675
PubMed articles	BRCA2
OMIM - Gene	600185
OMIM - Diseases	BrCa (Breast Cancer) BROVCA2 (Breast-ovarian cancer, familial, 2) FANCD1 (Fanconi anemia, complementation group D1) GLM3 (Glioblastoma 3) MDB (Medulloblastoma) PNCA2 (Pancreatic cancer 2) PrCa (Prostate cancer) WT1 (Wilms Tumor 1)

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
00000017	13	breast cancer 2, early onset	NM_000059.3	NP_000050.2	1117

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