Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | TP53 |
Variant | R280M |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 R280M lies within the DNA binding domain of the Tp53 protein (UniProt.org). R280M results in decreased DNA binding and activation of Tp53 target genes and resistance to apoptosis in cell culture (PMID: 21643018). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon8 TP53 R280M TP53 mutant TP53 inact mut TP53 R280M |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673780_7673781delGAinsTG |
cDNA | c.839_840delGAinsTG |
Protein | p.R280M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126113.2 | chr17:g.7673780_7673781delGAinsTG | c.839_840delGAinsTG | p.R280M | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7673780_7673781delGAinsTG | c.839_840delGAinsTG | p.R280M | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7673780_7673781delGAinsTG | c.839_840delGAinsTG | p.R280M | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7673780_7673781delTCinsCA | c.839_840delGAinsTG | p.R280M | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7673780_7673781delGAinsTG | c.839_840delGAinsTG | p.R280M | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7673780_7673781delGAinsTG | c.839_840delGAinsTG | p.R280M | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7673780_7673781delTCinsCA | c.839_840delGAinsTG | p.R280M | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7673780_7673781delTCinsCA | c.839_840delGAinsTG | p.R280M | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7673780_7673781delGAinsTG | c.839_840delGAinsTG | p.R280M | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7673780_7673781delGAinsTG | c.839_840delGAinsTG | p.R280M | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7673780_7673781delGAinsTG | c.839_840delGAinsTG | p.R280M | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7673780_7673781delGAinsTG | c.839_840delGAinsTG | p.R280M | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7673780_7673781delGAinsTG | c.839_840delGAinsTG | p.R280M | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7673780_7673781delTCinsCA | c.839_840delGAinsTG | p.R280M | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7673780_7673781delGAinsTG | c.839_840delGAinsTG | p.R280M | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7673780_7673781delGAinsTG | c.839_840delGAinsTG | p.R280M | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7673780_7673781delGAinsTG | c.839_840delGAinsTG | p.R280M | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 R280M | loss of function |