Gene Variant Detail

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Gene TP53
Variant C277Y
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions TP53 C277Y lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C277Y interacts with and regulates transcription of p73 and p63 (PMID: 11238924), activates MDM2 transcription to similar levels as wild-type protein, and retains the ability to induce apoptosis, but increases PIG3 transcription in a reporter assay (PMID: 15192123), and therefore, is predicted to lead to a gain of Tp53 protein function.
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 act mut TP53 C277Y

TP53 mutant TP53 exon8 TP53 C277Y

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Transcript NM_000546.6
gDNA chr17:g.7673790C>T
cDNA c.830G>A
Protein p.C277Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407264.1 chr17:g.7673790C>T c.830G>A p.C277Y RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7673790C>T c.830G>A p.C277Y RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7673790C>T c.830G>A p.C277Y RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7673790C>T c.830G>A p.C277Y RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7673790C>T c.830G>A p.C277Y RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7673790C>T c.830G>A p.C277Y RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7673790C>T c.830G>A p.C277Y RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7673790C>T c.830G>A p.C277Y RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7673790C>T c.830G>A p.C277Y RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7673790C>T c.830G>A p.C277Y RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7673790C>T c.830G>A p.C277Y RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7673790C>T c.830G>A p.C277Y RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7673790C>T c.830G>A p.C277Y RefSeq GRCh38/hg38

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Sorting

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