Annotation Detail
Information
- Associated Genes
- HLA-A
- Associated Variants
-
TP53 p.Val157Phe (p.V157F)
(
ENST00000576024.2,
ENST00000604348.6,
ENST00000510385.5,
ENST00000445888.6,
ENST00000504937.5,
ENST00000455263.6,
ENST00000269305.9,
ENST00000359597.8,
ENST00000714359.1,
ENST00000714408.1,
ENST00000714409.1,
ENST00000413465.6,
ENST00000420246.6,
ENST00000504290.5,
ENST00000610292.4,
ENST00000610538.4,
ENST00000610623.4,
ENST00000618944.4,
ENST00000619186.4,
ENST00000619485.4,
ENST00000620739.4,
ENST00000622645.4,
ENST00000714356.1,
ENST00000714357.1 )
TP53 p.Val157Ile (p.V157I) ( ENST00000604348.6, ENST00000510385.5, ENST00000504937.5, ENST00000455263.6, ENST00000504290.5, ENST00000576024.2, ENST00000610623.4, ENST00000269305.9, ENST00000359597.8, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000714356.1, ENST00000714357.1, ENST00000610292.4, ENST00000610538.4, ENST00000618944.4, ENST00000619186.4, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
WRAP53 p.Ser149Cys (p.S149C) ( ENST00000316024.9, ENST00000698742.1, ENST00000396463.7, ENST00000457584.6, ENST00000431639.6, ENST00000534050.5, ENST00000698746.1 )
TP53 p.Val157Phe (p.V157F) ( ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000504290.5, ENST00000504937.5, ENST00000510385.5, ENST00000576024.2, ENST00000604348.6, ENST00000610292.4, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000619186.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
TP53 p.Val157Ile (p.V157I) ( ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000504290.5, ENST00000504937.5, ENST00000510385.5, ENST00000576024.2, ENST00000604348.6, ENST00000610292.4, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000619186.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
WRAP53 p.Ser149Cys (p.S149C) ( ENST00000316024.9, ENST00000396463.7, ENST00000431639.6, ENST00000457584.6, ENST00000534050.5, ENST00000698742.1, ENST00000698746.1 ) - Associated Disease
- squamous cell carcinoma
- Source Database
- DisGeNET
- Description
- Previous analyses of p53 in 40 HLA-A*0201(HLA-A2)(+) squamous cell carcinomas of the head and neck (SCCHN) indicated that 6/13 p53 missense mutations that were detected, S149C, T150R, V157F, Y220C, Y220H and E271K, occurred within HLA-A2-restricted cytotoxic T lymphocyte (CTL)-defined p53 epitopes.
- Pubmed
- 17294448
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00318135759484294
- Year of publication
- 2007
Drugs