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Gene TP53
Variant A129Tfs*12
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TP53 A129Tfs*12 indicates a shift in the reading frame starting at amino acid 129 and terminating 12 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). A129Tfs*12 has not been biochemically characterized however, due to the effects of truncation mutations downstream of A129 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon5 TP53 A129Tfs*12

TP53 mutant TP53 inact mut TP53 A129Tfs*12

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Transcript NM_000546.6
gDNA chr17:g.(7675189_7675227)
cDNA c.(385_423)
Protein p.A129Tfs*12
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126114.3 chr17:g.(7675189_7675227) c.(385_423) p.A129Tfs*12 RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.(7675189_7675227) c.(385_423) p.A129Tfs*12 RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.(7675189_7675227) c.(385_423) p.A129Tfs*12 RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.(7675189_7675227) c.(385_423) p.A129Tfs*12 RefSeq GRCh38/hg38
NM_000546.6 chr17:g.(7675189_7675227) c.(385_423) p.A129Tfs*12 RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.(7675189_7675227) c.(385_423) p.A129Tfs*12 RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.(7675189_7675227) c.(385_423) p.A129Tfs*12 RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.(7675189_7675227) c.(385_423) p.A129Tfs*12 RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.(7675189_7675227) c.(385_423) p.A129Tfs*12 RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.(7675189_7675227) c.(385_423) p.A129Tfs*12 RefSeq GRCh38/hg38
NM_000546.5 chr17:g.(7675189_7675227) c.(385_423) p.A129Tfs*12 RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.(7675189_7675227) c.(385_423) p.A129Tfs*12 RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.(7675189_7675227) c.(385_423) p.A129Tfs*12 RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • 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 Protein Effect Treatment Approaches
TP53 A129Tfs*12 loss of function - predicted p53 Gene Therapy