Annotation Detail
Information
- Associated Genes
- TP53
- Associated Variants
-
TP53 p.Arg282Trp (p.R282W)
(
ENST00000576024.2,
ENST00000504290.5,
ENST00000445888.6,
ENST00000455263.6,
ENST00000504937.5,
ENST00000604348.6,
ENST00000510385.5,
ENST00000714409.1,
ENST00000359597.8,
ENST00000413465.6,
ENST00000420246.6,
ENST00000610292.4,
ENST00000610538.4,
ENST00000610623.4,
ENST00000618944.4,
ENST00000619186.4,
ENST00000619485.4,
ENST00000269305.9,
ENST00000620739.4,
ENST00000622645.4,
ENST00000714356.1,
ENST00000714357.1,
ENST00000714359.1,
ENST00000714408.1 )
TP53 p.Arg282Gly (p.R282G) ( ENST00000604348.6, ENST00000714357.1, ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000504290.5, ENST00000504937.5, ENST00000510385.5, ENST00000576024.2, ENST00000610292.4, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000619186.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714359.1, ENST00000714408.1, 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.Gly245Cys (p.G245C) ( ENST00000604348.6, ENST00000576024.2, ENST00000504290.5, ENST00000269305.9, ENST00000359597.8, ENST00000619186.4, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000504937.5, ENST00000510385.5, ENST00000610292.4, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
TP53 p.Gly245Ser (p.G245S) ( ENST00000504937.5, ENST00000576024.2, ENST00000510385.5, ENST00000604348.6, ENST00000714357.1, ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000504290.5, ENST00000610292.4, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000619186.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
TP53 p.Cys242Ser (p.C242S) ( ENST00000269305.9, ENST00000359597.8, ENST00000619186.4, ENST00000619485.4, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000504290.5, ENST00000714408.1, ENST00000714409.1, ENST00000504937.5, ENST00000510385.5, ENST00000576024.2, ENST00000604348.6, ENST00000610292.4, ENST00000610538.4, ENST00000413465.6, ENST00000610623.4, ENST00000618944.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000620739.4 )
TP53 p.Cys242Tyr (p.C242Y) ( ENST00000576024.2, ENST00000504937.5, ENST00000604348.6, ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000504290.5, ENST00000510385.5, 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.Lys120Ter (p.K120*) ( ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000714356.1, ENST00000714357.1, ENST00000445888.6, ENST00000455263.6, ENST00000576024.2, ENST00000604348.6, ENST00000610538.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714359.1, ENST00000714408.1, ENST00000610292.4, ENST00000714409.1 )
TP53 p.Lys120Glu (p.K120E) ( ENST00000604348.6, ENST00000420246.6, ENST00000576024.2, ENST00000445888.6, ENST00000455263.6, ENST00000269305.9, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000359597.8, ENST00000413465.6, ENST00000714357.1, ENST00000714359.1, ENST00000610292.4, ENST00000610538.4, ENST00000619485.4, ENST00000714408.1, ENST00000714409.1 )
TP53 p.Arg282Trp (p.R282W) ( 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.Arg282Gly (p.R282G) ( ENST00000359597.8, ENST00000269305.9, 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.Gly245Cys (p.G245C) ( ENST00000269305.9, ENST00000610538.4, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000504290.5, ENST00000504937.5, ENST00000510385.5, ENST00000576024.2, ENST00000604348.6, ENST00000610292.4, ENST00000610623.4, ENST00000618944.4, ENST00000619186.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
TP53 p.Gly245Ser (p.G245S) ( 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.Cys242Ser (p.C242S) ( 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.Cys242Tyr (p.C242Y) ( ENST00000269305.9, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000359597.8, ENST00000413465.6, 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.Lys120Ter (p.K120*) ( ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000576024.2, ENST00000604348.6, ENST00000610292.4, ENST00000610538.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
TP53 p.Lys120Glu (p.K120E) ( ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000576024.2, ENST00000604348.6, ENST00000610292.4, ENST00000610538.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
TP53 p.Gly154ArgfsTer27 (p.G154Rfs*27)
TP53 p.Gly154ArgfsTer27 (p.G154Rfs*27) - Associated Disease
- Li-fraumeni-like syndrome
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.125700279313686
- Year of publication
- NA
Drugs