Annotation Detail
Information
- Associated Genes
- AGA
- 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 )
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 ) - Associated Disease
- uterine corpus cancer
- Source Database
- DisGeNET
- Description
- An association between endometrial cancer and the polymorphism at codon 31 (AGC/serine to AGA/arginine [Ser(31)Arg]) of the p21 gene, which is known to be a downstream mediator of p53, has also been reported.
- Pubmed
- 15099969
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2004
Drugs