Annotation Detail

Information
Associated Genes
CXCR4
Associated Variants
CXCR4 p.Ser342Ter (p.S342*) ( ENST00000241393.4, ENST00000409817.1, ENST00000466288.1, ENST00000696136.1, ENST00000696137.1, ENST00000696152.1, ENST00000696228.1 )
CXCR4 p.Ser342Ter (p.S342*) ( ENST00000241393.4, ENST00000409817.1, ENST00000466288.1, ENST00000696136.1, ENST00000696137.1, ENST00000696152.1, ENST00000696228.1 )
Associated Disease
Malignant lymphoma - lymphoplasmacytic
Source Database
DisGeNET
Description
C1013G/CXCR4 acts as a driver mutation of tumor progression and modulator of drug resistance in lymphoplasmacytic lymphoma.
Pubmed
24711662
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2014
Drugs