Gene Variant Detail

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Gene TP53
Variant C242F
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 C242F lies within a zinc-binding residue in the DNA-binding region of the Tp53 protein (UniProt.org). C242F confers of loss of function to Tp53 as demonstrated by Tp53 destabilization and decreased transactivation activity in cell culture (PMID: 25294809, PMID: 22591662), however, has been reported to demonstrate radiosensitivity similar to wild-type Tp53 (PMID: 19035295).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon7 TP53 C242F

TP53 mutant TP53 inact mut TP53 C242F

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Transcript NM_000546.6
gDNA chr17:g.7674238C>A
cDNA c.725G>T
Protein p.C242F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126114.2 chr17:g.7674238C>A c.725G>T p.C242F RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7674238C>A c.725G>T p.C242F RefSeq GRCh38/hg38
NM_000546 chr17:g.7674238C>A c.725G>T p.C242F RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7674238C>A c.725G>T p.C242F RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7674238C>A c.725G>T p.C242F RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7674238C>A c.725G>T p.C242F RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7674238C>A c.725G>T p.C242F RefSeq GRCh38/hg38
NM_001126113 chr17:g.7674238C>A c.725G>T p.C242F RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7674238C>A c.725G>T p.C242F RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7674238C>A c.725G>T p.C242F RefSeq GRCh38/hg38
NM_001126114 chr17:g.7674238C>A c.725G>T p.C242F RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7674238C>A c.725G>T p.C242F RefSeq GRCh38/hg38
NM_001126112 chr17:g.7674238C>A c.725G>T p.C242F RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7674238C>A c.725G>T p.C242F RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7674238C>A c.725G>T p.C242F RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7674238C>A c.725G>T p.C242F RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7674238C>A c.725G>T p.C242F RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References