Annotation Detail

Information
Associated Genes
CASP8
Associated Variants
CASP8 p.Asp344His (p.D344H) ( ENST00000264275.9, ENST00000323492.11, ENST00000358485.8, ENST00000392263.6, ENST00000413726.6, ENST00000432109.6, ENST00000440732.6, ENST00000444430.3, ENST00000450491.6, ENST00000673742.1, ENST00000696067.1, ENST00000696069.1, ENST00000696085.1, ENST00000696087.1 )
CASP8 p.Asp344His (p.D344H) ( ENST00000264275.9, ENST00000323492.11, ENST00000358485.8, ENST00000392263.6, ENST00000413726.6, ENST00000432109.6, ENST00000440732.6, ENST00000444430.3, ENST00000450491.6, ENST00000673742.1, ENST00000696067.1, ENST00000696069.1, ENST00000696085.1, ENST00000696087.1 )
Associated Disease
Cancer of Head and Neck
Source Database
DisGeNET
Description
A CASP8 promoter region six-nucleotide deletion/insertion (-652 6N ins/del) variant and a coding region D302H polymorphism are reportedly important in cancer development, but no reported study has assessed the associations of these genetic variations with risk of head and neck cancer.
Pubmed
20086182
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2010
Drugs