Gene Variant Detail

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Gene TP53
Variant G279Pfs*69
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TP53 G279Pfs*69 indicates a shift in the reading frame starting at amino acid 279 and terminating 69 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). G279Pfs*69 has not been biochemically characterized however, due to the effects of truncation mutations downstream of G279 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon8 TP53 G279fs TP53 G279Pfs*69

TP53 mutant TP53 inact mut TP53 G279fs TP53 G279Pfs*69

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Transcript NM_000546.6
gDNA chr17:g.7673785_7673786insTTTGGGGG
cDNA c.834_835insCCCCCAAA
Protein p.G279Pfs*69
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407262.1 chr17:g.7673785_7673786insTTTGGGGG c.834_835insCCCCCAAA p.G279Pfs*69 RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7673785_7673786insTTTGGGGG c.834_835insCCCCCAAA p.G279Pfs*69 RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7673785_7673786insTTTGGGGG c.834_835insCCCCCAAA p.G279Pfs*69 RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7673785_7673786insTTTGGGGG c.834_835insCCCCCAAA p.G279Pfs*69 RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7673785_7673786insTTTGGGGG c.834_835insCCCCCAAA p.G279Pfs*69 RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7673785_7673786insTGGGGGGGGGGGGGG c.834_835insCCCCCCCCCCCCCCA p.G279Pfs*69 RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7673785_7673786insTTTGGGGG c.834_835insCCCCCAAA p.G279Pfs*69 RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7673785_7673786insTTTGGGGG c.834_835insCCCCCAAA p.G279Pfs*69 RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7673785_7673786insTTTGGGGGGGGGGG c.834_835insCCCCCCCCCCCAAA p.G279Pfs*69 RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7673785_7673786insTGGGGGGGGGGGGGG c.834_835insCCCCCCCCCCCCCCA p.G279Pfs*69 RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7673785_7673786insTTTGGGGGGGGGGG c.834_835insCCCCCCCCCCCAAA p.G279Pfs*69 RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7673785_7673786insTGGGGGGGGGGGGGG c.834_835insCCCCCCCCCCCCCCA p.G279Pfs*69 RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7673785_7673786insTGGGGGGGGGGGGGG c.834_835insCCCCCCCCCCCCCCA p.G279Pfs*69 RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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