Annotation Detail
Information
- Associated Genes
- TP53
- Associated Variants
-
TP53 p.Arg273Cys (p.R273C)
(
ENST00000576024.2,
ENST00000510385.5,
ENST00000504937.5,
ENST00000604348.6,
ENST00000269305.9,
ENST00000359597.8,
ENST00000420246.6,
ENST00000445888.6,
ENST00000413465.6,
ENST00000455263.6,
ENST00000504290.5,
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.Arg273Ser (p.R273S) ( ENST00000420246.6, ENST00000445888.6, ENST00000504937.5, ENST00000604348.6, ENST00000455263.6, ENST00000510385.5, ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000504290.5, ENST00000576024.2, ENST00000714356.1, ENST00000610292.4, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000619186.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
TP53 p.Arg273Cys (p.R273C) ( 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.Arg273Ser (p.R273S) ( ENST00000576024.2, ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000504290.5, ENST00000504937.5, ENST00000510385.5, 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
- melanoma
- Source Database
- DisGeNET
- Description
- Two new mutations, the G542E exon 12 mutation variant of the FGFR2 gene and the R273C mutation variant of the p53 gene, are reported for the first time in BRAF mutant melanoma.
- Pubmed
- 24858661
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.226174462329837
- Year of publication
- 2015
Drugs