Gene Variant Detail

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Gene TP53
Variant D281E
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions TP53 D281E lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). D281E results in loss of Tp53 binding to ZBP-89 in cell culture (PMID: 12759240), and also demonstrates a lack of Tp53 transactivation activity in a yeast assay (PMID: 20407015), and therefore, is predicted to lead to a loss of Tp53 protein function.
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon8 TP53 D281E

TP53 mutant TP53 inact mut TP53 D281E

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Transcript NM_000546.6
gDNA chr17:g.7673777G>C
cDNA c.843C>G
Protein p.D281E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407266.1 chr17:g.7673777G>C c.843C>G p.D281E RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7673777G>C c.843C>G p.D281E RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7673777G>C c.843C>G p.D281E RefSeq GRCh38/hg38
NM_000546 chr17:g.7673777G>C c.843C>G p.D281E RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7673777G>C c.843C>G p.D281E RefSeq GRCh38/hg38
NM_001126112 chr17:g.7673777G>C c.843C>G p.D281E RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7673777G>C c.843C>G p.D281E RefSeq GRCh38/hg38
NM_001126113 chr17:g.7673777G>C c.843C>G p.D281E RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7673777G>C c.843C>G p.D281E RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7673777G>C c.843C>G p.D281E RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7673777G>C c.843C>G p.D281E RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7673777G>C c.843C>G p.D281E RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7673777G>C c.843C>G p.D281E RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7673777G>C c.843C>G p.D281E RefSeq GRCh38/hg38
NM_001126114 chr17:g.7673777G>C c.843C>G p.D281E RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7673777G>C c.843C>G p.D281E RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7673777G>C c.843C>G p.D281E 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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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References