CHEK2 gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

CHEK2 (checkpoint kinase 2)

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

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CHEK2 gene homepage

General information
Gene symbol	CHEK2
Gene name	checkpoint kinase 2
Chromosome	22
Chromosomal band	q12.1
Imprinted	Unknown
Genomic reference	NG_008150.2
Transcript reference	NM_001005735.1, NM_001257387.1, NM_007194.3, NM_145862.2
Associated with diseases	BrCa, PrCa
Citation reference(s)	-
Curators (1)	Despoina Kalfakakou
Total number of public variants reported	466
Unique public DNA variants reported	96
Individuals with public variants	489
Hidden variants	0
Date created	May 20, 2020
Date last updated	May 27, 2022
Version	CHEK2:220527

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	16627
Entrez Gene	11200
PubMed articles	CHEK2
OMIM - Gene	604373
OMIM - Diseases	BrCa (Breast Cancer) PrCa (Prostate 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
00000035	22	transcript variant 1	NM_007194.3	NP_009125.1	466
00000036	22	transcript variant 2	NM_145862.2	NP_665861.1	466
00000037	22	transcript variant 3	NM_001005735.1	NP_001005735.1	466
00000038	22	transcript variant 4	NM_001257387.1	NP_001244316.1	466

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