Annotation Detail
Information
- Associated Genes
- CHEK2
- Associated Variants
-
CHEK2 p.Arg361His (p.R361H)
(
ENST00000348295.7,
ENST00000382580.6,
ENST00000402731.6,
ENST00000403642.5,
ENST00000404276.6,
ENST00000405598.5,
ENST00000425190.7,
ENST00000464581.6,
ENST00000649563.1,
ENST00000650281.1 )
CHEK2 p.Arg224His (p.R224H) ( ENST00000425190.7, ENST00000348295.7, ENST00000382580.6, ENST00000403642.5, ENST00000405598.5, ENST00000402731.6, ENST00000404276.6, ENST00000650281.1, ENST00000649563.1 )
CHEK2 p.Arg224Cys (p.R224C) ( ENST00000405598.5, ENST00000425190.7, ENST00000402731.6, ENST00000404276.6, ENST00000348295.7, ENST00000403642.5, ENST00000382580.6, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Arg224Gly (p.R224G) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Arg223Cys (p.R223C) ( ENST00000403642.5, ENST00000404276.6, ENST00000382580.6, ENST00000402731.6, ENST00000425190.7, ENST00000405598.5, ENST00000348295.7, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Arg361His (p.R361H) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000464581.6, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Arg224His (p.R224H) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Arg224Cys (p.R224C) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Arg224Gly (p.R224G) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Arg223Cys (p.R223C) ( ENST00000650281.1, ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1 ) - Associated Disease
- Malignant neoplasm of prostate
- Source Database
- DisGeNET
- Description
- Mutations in CHEK2 associated with prostate cancer risk.
- Pubmed
- 12533788
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.138349764822937
- Year of publication
- 2003
Drugs