Annotation Detail
Information
- Associated Genes
- CHEK2
- Associated Variants
-
CHEK2 p.Arg160Gly (p.R160G)
(
ENST00000348295.7,
ENST00000382580.6,
ENST00000402731.6,
ENST00000403642.5,
ENST00000404276.6,
ENST00000405598.5,
ENST00000425190.7,
ENST00000649563.1,
ENST00000650281.1 )
CHEK2 p.Arg160Gly (p.R160G) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 ) - Associated Disease
- Prostatic Neoplasms
- Source Database
- DisGeNET
- Description
- In this study, we have identified two novel somatic CHEK2 mutations, c.349A > G (p.R117G) and c.967A > C (p.E321K), in prostate tumor specimens and investigated the functions of these mutants in vivo.
- Pubmed
- 16835864
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.144347399398635
- Year of publication
- 2006
Drugs