Annotation Detail

Information
Associated Genes
PAK3
Associated Variants
CDKN1A p.Ser31Arg (p.S31R) ( ENST00000244741.10, ENST00000373711.3, ENST00000405375.5, ENST00000448526.6, ENST00000615513.4 )
CDKN1A p.Ser31= (p.S31=) ( ENST00000244741.10, ENST00000373711.3, ENST00000405375.5, ENST00000448526.6, ENST00000615513.4 )
PAK3 p.Ser31Arg (p.S31R) ( ENST00000262836.6, ENST00000360648.8, ENST00000372007.10, ENST00000372010.5, ENST00000417227.5, ENST00000425146.5, ENST00000446737.5, ENST00000518291.6, ENST00000519681.5 )
CDKN1A p.Ser31Arg (p.S31R) ( ENST00000244741.10, ENST00000373711.3, ENST00000405375.5, ENST00000448526.6, ENST00000615513.4 )
CDKN1A p.Ser31= (p.S31=) ( ENST00000244741.10, ENST00000373711.3, ENST00000405375.5, ENST00000448526.6, ENST00000615513.4 )
PAK3 p.Ser31Arg (p.S31R) ( ENST00000262836.6, ENST00000360648.8, ENST00000372007.10, ENST00000372010.5, ENST00000417227.5, ENST00000425146.5, ENST00000446737.5, ENST00000518291.6, ENST00000519681.5 )
Associated Disease
squamous cell carcinoma
Source Database
DisGeNET
Description
The results for the p21 Ser31Arg polymorphism suggested that 31Ser is a moderate-risk allele for squamous-cell carcinoma.
Pubmed
17059853
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2007
Drugs