Annotation Detail
Information
- Associated Genes
- CYP2C8
- Associated Variants
-
CYP2C8 MUTATION
CYP2C8 MUTATION
CYP2C8 c.1291+106G>A ( ENST00000535898.5, ENST00000623108.3, ENST00000371270.6 )
POLR1G p.Gln506Lys (p.Q506K) ( ENST00000300853.8, ENST00000423698.6, ENST00000309424.8, ENST00000589804.1 )
CYP2C8 c.1291+106G>A ( ENST00000371270.6, ENST00000535898.5, ENST00000623108.3 )
POLR1G p.Gln506Lys (p.Q506K) ( ENST00000300853.8, ENST00000423698.6, ENST00000309424.8, ENST00000589804.1 ) - Associated Disease
- neuropathy
- Source Database
- DisGeNET
- Description
- Regarding paclitaxel toxicity: CYP2C8 HapC and CYP2C8 rs1934951 were associated with anemia; and ERCC1 Gln504Lys with neuropathy (p≤0.01).
- Pubmed
- 25495407
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2015
Drugs