Annotation Detail

Information
Associated Genes
CDKN1B
Associated Variants
CDKN1B p.Val109Asp (p.V109D) ( ENST00000228872.9, ENST00000614874.2, ENST00000396340.1 )
CDKN1B p.Val109Ala (p.V109A) ( ENST00000396340.1, ENST00000614874.2, ENST00000228872.9 )
CDKN1B p.Val109Gly (p.V109G) ( ENST00000228872.9, ENST00000396340.1, ENST00000614874.2 )
CDKN1B p.Val109Asp (p.V109D) ( ENST00000228872.9, ENST00000396340.1, ENST00000614874.2 )
CDKN1B p.Val109Ala (p.V109A) ( ENST00000228872.9, ENST00000396340.1, ENST00000614874.2 )
CDKN1B p.Val109Gly (p.V109G) ( ENST00000228872.9, ENST00000396340.1, ENST00000614874.2 )
Associated Disease
Pancreatic Neoplasm
Source Database
DisGeNET
Description
CDKN1B also harbors single nucleotide polymorphisms; the T/G transversion at nucleotide 326 (the V109G variant) has been reported to be protective in breast, hereditary prostate, and pancreatic tumors.
Pubmed
21177330
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00590570783731011
Year of publication
2011
Drugs