Annotation Detail

Information

Associated Genes: NT5C2
Associated Variants: NT5C2 p.Arg375Gln (p.R375Q) ( ENST00000675985.1, ENST00000675326.1, ENST00000674860.1, ENST00000674696.1, ENST00000676449.1, ENST00000404739.8, ENST00000675645.1, ENST00000676428.1, ENST00000343289.9 )
NT5C2 p.Arg375Gln (p.R375Q) ( ENST00000343289.9, ENST00000404739.8, ENST00000674696.1, ENST00000674860.1, ENST00000675326.1, ENST00000675645.1, ENST00000675985.1, ENST00000676428.1, ENST00000676449.1 )
Associated Disease: childhood acute lymphocytic leukemia
Source Database: CIViC Evidence
Description: Lentiviral mediated overexpression of NT5C2 R367Q in Reh cells resulted in no change in apoptosis after exposure to cytarabine, gemcitabine, doxorubicin, or prednisolone compared to wildtype NT5C2 overexpression and GFP control lines.
Variant Origin: somatic
Variant Origin: Somatic
Evidence URL: https://civic.genome.wustl.edu/links/evidence_items/7815
Gene URL: https://civic.genome.wustl.edu/links/genes/9189
Variant URL: https://civic.genome.wustl.edu/links/variants/238
Rating: 4
Evidence Type: Predictive
Disease: Childhood Acute Lymphocytic Leukemia
Evidence Direction: Does Not Support
Drug: Doxorubicin,Cytarabine,Gemcitabine,Prednisolone
Evidence Level: D
Clinical Significance: Resistance
Pubmed: 23377183

Drugs