Annotation Detail
Information
- Associated Genes
- ERCC2
- Associated Variants
-
CCNH p.Val270Ala (p.V270A)
(
ENST00000256897.9,
ENST00000504878.1,
ENST00000508855.5,
ENST00000713562.1 )
CCNH p.Val270Asp (p.V270D) ( ENST00000256897.9, ENST00000504878.1, ENST00000508855.5, ENST00000713562.1 )
CCNH p.Val270Ala (p.V270A) ( ENST00000256897.9, ENST00000504878.1, ENST00000508855.5, ENST00000713562.1 )
CCNH p.Val270Asp (p.V270D) ( ENST00000256897.9, ENST00000504878.1, ENST00000508855.5, ENST00000713562.1 ) - Associated Disease
- squamous cell carcinoma
- Source Database
- DisGeNET
- Description
- Both of CCNH-V270A C/C or C/T and XPD 751 A/A showed a significant longer survival in the squamous cell carcinoma subgroup (P=0.047 and P=0.034 respectively).
- Pubmed
- 21676483
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.175575822472837
- Year of publication
- 2012
Drugs