Annotation Detail
Information
- Associated Genes
- TP53
- Associated Variants
-
TP53 MUTATION
TP53 MUTATION
TP53 p.Arg290His (p.R290H) ( ENST00000504937.5, ENST00000455263.6, ENST00000576024.2, ENST00000510385.5, ENST00000420246.6, ENST00000445888.6, ENST00000604348.6, ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000714408.1, ENST00000622645.4, ENST00000714356.1, ENST00000504290.5, ENST00000620739.4, ENST00000714357.1, ENST00000610292.4, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000619186.4, ENST00000619485.4, ENST00000714359.1, ENST00000714409.1 )
TP53 p.Leu257Arg (p.L257R) ( ENST00000576024.2, ENST00000604348.6, ENST00000269305.9, ENST00000359597.8, ENST00000619186.4, ENST00000619485.4, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000504290.5, ENST00000413465.6, ENST00000504937.5, ENST00000510385.5, ENST00000620739.4, ENST00000610292.4, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
TP53 p.Leu257Gln (p.L257Q) ( ENST00000455263.6, ENST00000269305.9, ENST00000420246.6, ENST00000445888.6, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1, ENST00000504290.5, ENST00000504937.5, ENST00000510385.5, ENST00000576024.2, ENST00000604348.6, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000359597.8, ENST00000413465.6, ENST00000610292.4, ENST00000619186.4, ENST00000619485.4, ENST00000620739.4 )
TP53 p.Ala138Pro (p.A138P) ( 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, ENST00000622645.4, ENST00000620739.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
TP53 p.Arg290His (p.R290H) ( 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.Leu257Arg (p.L257R) ( 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.Leu257Gln (p.L257Q) ( ENST00000269305.9, ENST00000622645.4, 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, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
TP53 p.Ala138Pro (p.A138P) ( 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 ) - Associated Disease
- Li-Fraumeni syndrome 1
- Source Database
- DisGeNET
- Description
- p53 mutations in human cancers.
- Pubmed
- 1905840
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.440542883744161
- Year of publication
- 1991
Drugs