TP53 G302Afs*42
Gene Variant Detail

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Gene TP53
Variant G302Afs*42
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TP53 G302Afs*42 indicates a shift in the reading frame starting at amino acid 302 and terminating 42 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). G302Afs*42 has not been biochemically characterized however, due to the effects of other truncation mutations downstream of G302 (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 G302Afs*42

TP53 mutant TP53 inact mut TP53 G302Afs*42

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Transcript NM_000546.5
gDNA chr17:g.7673714_7673717delCCCT
cDNA c.905_908delGGAG
Protein p.G302Afs*42
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000546.5 chr17:g.7673714_7673717delCCCT c.905_908delGGAG p.G302Afs*42 RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7673714_7673717delCCCT c.905_908delGGAG p.G302Afs*42 RefSeq GRCh38/hg38

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