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Gene | TP53 |
Variant | S241F |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 S241F lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). S241F results in a decreased in Tp53 transcriptional activity (PMID: 19225112, PMID: 26585234), and interferes with formation of the Tp53/Bard1/CstF complex in cell culture (PMID: 21383700). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon7 TP53 S241F TP53 mutant TP53 inact mut TP53 S241F |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674241G>A |
cDNA | c.722C>T |
Protein | p.S241F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126113.3 | chr17:g.7674241G>A | c.722C>T | p.S241F | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7674241G>A | c.722C>T | p.S241F | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7674241G>A | c.722C>T | p.S241F | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7674241G>A | c.722C>T | p.S241F | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7674241G>A | c.722C>T | p.S241F | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7674241G>A | c.722C>T | p.S241F | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7674241G>A | c.722C>T | p.S241F | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7674241G>A | c.722C>T | p.S241F | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7674241G>A | c.722C>T | p.S241F | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7674241G>A | c.722C>T | p.S241F | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7674241G>A | c.722C>T | p.S241F | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7674241G>A | c.722C>T | p.S241F | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7674241G>A | c.722C>T | p.S241F | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7674241G>A | c.722C>T | p.S241F | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7674241G>A | c.722C>T | p.S241F | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7674241G>A | c.722C>T | p.S241F | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7674241G>A | c.722C>T | p.S241F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
TP53 S241F | ovarian cancer | sensitive | Ganetespib | Preclinical | Actionable | In a preclinical study, Ganetespib inhibited growth of human ovarian cancer cells harboring TP53 S241F in culture (PMID: 26009011). | 26009011 |
TP53 S241F | lung small cell carcinoma | sensitive | APR-246 | Preclinical - Cell line xenograft | Actionable | In a preclinical study, APR-246 demonstrated efficacy in xenograft models of small cell lung cancer harboring TP53 S241F (PMID: 21415220). | 21415220 |
TP53 S241F | ovarian clear cell adenocarcinoma | decreased response | DS-7423 | Preclinical - Cell culture | Actionable | In a preclinical study, an ovarian clear cell adenocarcinoma cell line harboring TP53 S241F demonstrated reduced sensitivity to DS-7423 in culture (PMID: 24504419). | 24504419 |